{ "uniprot_canonical_ac": "O00308-1", "uniprot_ac": "O00308", "uniprot_id": "WWP2_HUMAN", "mass": { "chemical_mass": 98912.0, "monoisotopic_mass": 98912.0 }, "refseq": { "ac": "NP_001257382", "name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "summary": "This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" }, "gene_names": [ { "name": "WWP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00308", "id": "O00308" }, { "name": "AIP2; WWp2-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382", "id": "NP_001257382" }, { "name": "WWP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382", "id": "NP_001257382" } ], "protein_names": [ { "name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00308" }, { "name": "2.3.2.26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00308" }, { "name": "AIP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00308" }, { "name": "Atrophin-1-interacting protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00308" }, { "name": "HECT-type E3 ubiquitin transferase WWP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00308" }, { "name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382", "id": "NP_001257382" }, { "name": "WW domain-containing protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00308" }, { "name": "atrophin-1 interacting protein 2; NEDD4-like E3 ubiquitin-protein ligase WWP2; HECT-type E3 ubiquitin transferase WWP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382", "id": "NP_001257382" } ], "function": [ { "annotation": "Data show that the WWP2-N isoform interacts with Smad2 and Smad3, whereas WWP2-C interacts only with Smad7.", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" }, { "database": "PubMed", "id": "21258410", "url": "https://glygen.org/publication/PubMed/21258410" } ] }, { "annotation": "Down-regulation of WWP2 aggravates Type 2 diabetes mellitus-induced vascular endothelial injury through modulating ubiquitination and degradation of DDX3X. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" }, { "database": "PubMed", "id": "37149668", "url": "https://glygen.org/publication/PubMed/37149668" } ] }, { "annotation": "E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation-induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308#function" }, { "database": "PubMed", "id": "19274063", "url": "https://glygen.org/publication/PubMed/19274063" }, { "database": "PubMed", "id": "19651900", "url": "https://glygen.org/publication/PubMed/19651900" } ] }, { "annotation": "Expression, binding, and functional data all suggest that WWP2 is a candidate to regulate ENaC-mediated Na(+) transport in epithelia", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" }, { "database": "PubMed", "id": "12167593", "url": "https://glygen.org/publication/PubMed/12167593" } ] }, { "annotation": "This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" } ] }, { "annotation": "WWP2 drives the progression of gastric cancer by facilitating the ubiquitination and degradation of LATS1 protein. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" }, { "database": "PubMed", "id": "36803368", "url": "https://glygen.org/publication/PubMed/36803368" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00308", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00308" } ], "glycoeffect": [], "start_pos": 59, "end_pos": 59, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "16", "chr_pos": "69798787", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R59", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 498, "end_pos": 498, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect FBXL15-mediated ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] }, { "start_pos": 500, "end_pos": 500, "sequence_org": "H", "sequence_mut": "K", "comment": "Does not affect FBXL15-mediated ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] }, { "start_pos": 838, "end_pos": 838, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ubiquitination of POU5F1.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "PubMed", "id": "19274063", "url": "https://glygen.org/publication/PubMed/19274063" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00308" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "common_name": "Human" } ], "gene": [ { "name": "WWP2", "url": "https://www.uniprot.org/uniprot/O00308", "locus": { "chromosome": "16", "start_pos": 69941741, "end_pos": 69762328, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198373", "url": "https://www.ensembl.org/id/ENSG00000198373" } ] } } ], "crossref": [ { "id": "ENSG00000198373", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198373", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00308", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00308", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "2.3.2.26", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.3.2.26&UniProtAcc=O00308", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00078", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00078", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00201", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00201", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04021", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04021", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "WWP2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=WWP2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "11060", "url": "https://www.ncbi.nlm.nih.gov/gene/11060", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "16804", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16804", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00308", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00308*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000569", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000569", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001202", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001202", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024928", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024928", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035892", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035983", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035983", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:11060", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11060", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602308", "url": "http://www.omim.org/entry/602308", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00308", "url": "https://www.nextprot.org/entry/NX_O00308", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00308", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00308", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EIDMADW", "url": "https://omabrowser.org/oma/group/EIDMADW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5480520at2759", "url": "http://www.orthodb.org/?query=5480520at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11254", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11254", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11254:SF396", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11254:SF396", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4Y07", "url": "https://www.rcsb.org/structure/4Y07", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TJ7", "url": "https://www.rcsb.org/structure/5TJ7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TJ8", "url": "https://www.rcsb.org/structure/5TJ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TJQ", "url": "https://www.rcsb.org/structure/5TJQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6J1Z", "url": "https://www.rcsb.org/structure/6J1Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RSS", "url": "https://www.rcsb.org/structure/6RSS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00168", "url": "http://pfam.xfam.org/family/PF00168", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00397", "url": "http://pfam.xfam.org/family/PF00397", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00632", "url": "http://pfam.xfam.org/family/PF00632", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00308", "url": "https://pharos.nih.gov/targets/O00308", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00308", "url": "http://purl.obolibrary.org/obo/PR_O00308", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H3BPJ8", "url": "https://www.uniprot.org/uniprot/H3BPJ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPJ8-1", "url": "https://www.uniprot.org/uniprot/H3BPJ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRX8", "url": "https://www.uniprot.org/uniprot/H3BRX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRX8-1", "url": "https://www.uniprot.org/uniprot/H3BRX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS79", "url": "https://www.uniprot.org/uniprot/H3BS79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS79-1", "url": "https://www.uniprot.org/uniprot/H3BS79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00308-1", "url": "https://www.uniprot.org/uniprot/O00308-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00308-2", "url": "https://www.uniprot.org/uniprot/O00308-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00308-3", "url": "https://www.uniprot.org/uniprot/O00308-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00308-4", "url": "https://www.uniprot.org/uniprot/O00308-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIILNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKMENMQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGNVPNGSALTDGSQLPSRDSSGTAVAPENRHQPPSTNCFGGRSRTHRHSGASARTTPATGEQSPGARSRHRQPVKNSGHSGLANGTVNDEPTTATDPEEPSVVGVTSPPAAPLSVTPNPNTTSLPAPATPAEGEEPSTSGTQQLPAAAQAPDALPAGWEQRELPNGRVYYVDHNTKTTTWERPLPPGWEKRTDPRGRFYYVDHNTRTTTWQRPTAEYVRNYEQWQSQRNQLQGAMQHFSQRFLYQSSSASTDHDPLGPLPPGWEKRQDNGRVYYVNHNTRTTQWEDPRTQGMIQEPALPPGWEMKYTSEGVRYFVDHNTRTTTFKDPRPGFESGTKQGSPGAYDRSFRWKYHQFRFLCHSNALPSHVKISVSRQTLFEDSFQQIMNMKPYDLRRRLYIIMRGEEGLDYGGIAREWFFLLSHEVLNPMYCLFEYAGKNNYCLQINPASSINPDHLTYFRFIGRFIAMALYHGKFIDTGFTLPFYKRMLNKRPTLKDLESIDPEFYNSIVWIKENNLEECGLELYFIQDMEILGKVTTHELKEGGESIRVTEENKEEYIMLLTDWRFTRGVEEQTKAFLDGFNEVAPLEWLRYFDEKELELMLCGMQEIDMSDWQKSTIYRHYTKNSKQIQWFWQVVKEMDNEKRIRLLQFVTGTCRLPVGGFAELIGSNGPQKFCIDKVGKETWLPRSHTCFNRLDLPPYKSYEQLREKLLYAIEETEGFGQE", "length": 870, "header": "sp|O00308-1|WWP2_HUMAN Isoform 1 of NEDD4-like E3 ubiquitin-protein ligase WWP2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=2 CANONICAL=O00308-1" }, "isoforms": [ { "isoform_ac": "H3BPJ8-1", "url": "", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIG", "length": 61, "header": "tr|H3BPJ8-1|H3BPJ8_HUMAN Computationally mapped isoform of WW domain containing E3 ubiquitin protein ligase 2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=1 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69798794, "end_pos": 69787011, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563659.5", "url": "https://www.ensembl.org/id/ENST00000563659.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455347.1", "url": "https://www.ensembl.org/id/ENSP00000455347.1" } ] } }, { "isoform_ac": "H3BRX8-1", "url": "", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIILNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVL", "length": 107, "header": "tr|H3BRX8-1|WWP2_HUMAN Computationally mapped isoform of NEDD4-like E3 ubiquitin-protein ligase WWP2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=1 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69799276, "end_pos": 69787011, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561780.5", "url": "https://www.ensembl.org/id/ENST00000561780.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456451.1", "url": "https://www.ensembl.org/id/ENSP00000456451.1" } ] } }, { "isoform_ac": "H3BS79-1", "url": "", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIILNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKSTF", "length": 116, "header": "tr|H3BS79-1|H3BS79_HUMAN Computationally mapped isoform of WW domain containing E3 ubiquitin protein ligase 2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=1 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69827901, "end_pos": 69787011, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569620.5", "url": "https://www.ensembl.org/id/ENST00000569620.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456582.1", "url": "https://www.ensembl.org/id/ENSP00000456582.1" } ] } }, { "isoform_ac": "O00308-1", "url": "", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIILNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKMENMQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGNVPNGSALTDGSQLPSRDSSGTAVAPENRHQPPSTNCFGGRSRTHRHSGASARTTPATGEQSPGARSRHRQPVKNSGHSGLANGTVNDEPTTATDPEEPSVVGVTSPPAAPLSVTPNPNTTSLPAPATPAEGEEPSTSGTQQLPAAAQAPDALPAGWEQRELPNGRVYYVDHNTKTTTWERPLPPGWEKRTDPRGRFYYVDHNTRTTTWQRPTAEYVRNYEQWQSQRNQLQGAMQHFSQRFLYQSSSASTDHDPLGPLPPGWEKRQDNGRVYYVNHNTRTTQWEDPRTQGMIQEPALPPGWEMKYTSEGVRYFVDHNTRTTTFKDPRPGFESGTKQGSPGAYDRSFRWKYHQFRFLCHSNALPSHVKISVSRQTLFEDSFQQIMNMKPYDLRRRLYIIMRGEEGLDYGGIAREWFFLLSHEVLNPMYCLFEYAGKNNYCLQINPASSINPDHLTYFRFIGRFIAMALYHGKFIDTGFTLPFYKRMLNKRPTLKDLESIDPEFYNSIVWIKENNLEECGLELYFIQDMEILGKVTTHELKEGGESIRVTEENKEEYIMLLTDWRFTRGVEEQTKAFLDGFNEVAPLEWLRYFDEKELELMLCGMQEIDMSDWQKSTIYRHYTKNSKQIQWFWQVVKEMDNEKRIRLLQFVTGTCRLPVGGFAELIGSNGPQKFCIDKVGKETWLPRSHTCFNRLDLPPYKSYEQLREKLLYAIEETEGFGQE", "length": 870, "header": "sp|O00308-1|WWP2_HUMAN Isoform 1 of NEDD4-like E3 ubiquitin-protein ligase WWP2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=2 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69939937, "end_pos": 69787011, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359154.7", "url": "https://www.ensembl.org/id/ENST00000359154.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000352069.2", "url": "https://www.ensembl.org/id/ENSP00000352069.2" } ] } }, { "isoform_ac": "O00308-2", "url": "", "sequence": { "sequence": "MQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGNVPNGSALTDGSQLPSRDSSGTAVAPENRHQPPSTNCFGGRSRTHRHSGASARTTPATGEQSPGARSRHRQPVKNSGHSGLANGTVNDEPTTATDPEEPSVVGVTSPPAAPLSVTPNPNTTSLPAPATPAEGEEPSTSGTQQLPAAAQAPDALPAGWEQRELPNGRVYYVDHNTKTTTWERPLPPGWEKRTDPRGRFYYVDHNTRTTTWQRPTAEYVRNYEQWQSQRNQLQGAMQHFSQRFLYQSSSASTDHDPLGPLPPGWEKRQDNGRVYYVNHNTRTTQWEDPRTQGMIQEPALPPGWEMKYTSEGVRYFVDHNTRTTTFKDPRPGFESGTKQGSPGAYDRSFRWKYHQFRFLCHSNALPSHVKISVSRQTLFEDSFQQIMNMKPYDLRRRLYIIMRGEEGLDYGGIAREWFFLLSHEVLNPMYCLFEYAGKNNYCLQINPASSINPDHLTYFRFIGRFIAMALYHGKFIDTGFTLPFYKRMLNKRPTLKDLESIDPEFYNSIVWIKENNLEECGLELYFIQDMEILGKVTTHELKEGGESIRVTEENKEEYIMLLTDWRFTRGVEEQTKAFLDGFNEVAPLEWLRYFDEKELELMLCGMQEIDMSDWQKSTIYRHYTKNSKQIQWFWQVVKEMDNEKRIRLLQFVTGTCRLPVGGFAELIGSNGPQKFCIDKVGKETWLPRSHTCFNRLDLPPYKSYEQLREKLLYAIEETEGFGQE", "length": 754, "header": "sp|O00308-2|WWP2_HUMAN Isoform 2 of NEDD4-like E3 ubiquitin-protein ligase WWP2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=2 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69939937, "end_pos": 69840134, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356003.6", "url": "https://www.ensembl.org/id/ENST00000356003.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000348283.3", "url": "https://www.ensembl.org/id/ENSP00000348283.3" } ] } }, { "isoform_ac": "O00308-3", "url": "", "sequence": { "sequence": "MIQEPALPPGWEMKYTSEGVRYFVDHNTRTTTFKDPRPGFESGTKQGSPGAYDRSFRWKYHQFRFLCHSNALPSHVKISVSRQTLFEDSFQQIMNMKPYDLRRRLYIIMRGEEGLDYGGIAREWFFLLSHEVLNPMYCLFEYAGKNNYCLQINPASSINPDHLTYFRFIGRFIAMALYHGKFIDTGFTLPFYKRMLNKRPTLKDLESIDPEFYNSIVWIKENNLEECGLELYFIQDMEILGKVTTHELKEGGESIRVTEENKEEYIMLLTDWRFTRGVEEQTKAFLDGFNEVAPLEWLRYFDEKELELMLCGMQEIDMSDWQKSTIYRHYTKNSKQIQWFWQVVKEMDNEKRIRLLQFVTGTCRLPVGGFAELIGSNGPQKFCIDKVGKETWLPRSHTCFNRLDLPPYKSYEQLREKLLYAIEETEGFGQE", "length": 431, "header": "sp|O00308-3|WWP2_HUMAN Isoform 3 of NEDD4-like E3 ubiquitin-protein ligase WWP2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=2 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69939937, "end_pos": 69930131, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568684.1", "url": "https://www.ensembl.org/id/ENST00000568684.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456216.1", "url": "https://www.ensembl.org/id/ENSP00000456216.1" } ] } }, { "isoform_ac": "O00308-4", "url": "", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIILNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKMENMQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGNVPNGSALTDGSQLPSRDSSGTAVAPENRHQPPSTNCFGGRSRTHRHSGASARTTPATGEQSPGARSRHRQPVKNSGHSGLANGTVNDEPTTATDPEEPSVVGVTSPPAAPLSVTPNPNTTSLPAPATPAEGEEPSTSGTQQLPAAAQAPDALPAGWEQRELPNGRVYYVDHNTKTTTWERPLPPG", "length": 335, "header": "sp|O00308-4|WWP2_HUMAN Isoform 4 of NEDD4-like E3 ubiquitin-protein ligase WWP2 OS=Homo sapiens OX=9606 GN=WWP2 PE=1 SV=2 CANONICAL=O00308-1" }, "locus": { "chromosome": "16", "start_pos": 69908851, "end_pos": 69787011, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569174.5", "url": "https://www.ensembl.org/id/ENST00000569174.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455311.1", "url": "https://www.ensembl.org/id/ENSP00000455311.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00308", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00308" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "phosphorylation": [ { "start_pos": 211, "end_pos": 211, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O00308", "url": "http://phospho.elm.eu.org/byAccession/O00308.html" } ], "site_lbl": "Ser211" }, { "start_pos": 369, "end_pos": 369, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "35331737", "url": "https://glygen.org/publication/PubMed/35331737" } ], "site_lbl": "Tyr369" }, { "start_pos": 455, "end_pos": 455, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr455" }, { "start_pos": 467, "end_pos": 467, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr467" }, { "start_pos": 469, "end_pos": 469, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr469" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human ligands of the Notch receptor.", "journal": "The American journal of pathology", "date": "1999", "authors": "Gray GE, Mann RS, Mitsiadis E, Henrique D, Carcangiu ML, Banks A, Leiman J, Ward D, Ish-Horowitz D, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "10079256", "url": "https://glygen.org/publication/PubMed/10079256" } ] }, { "title": "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Joberty G, Perlungher RR, Macara IG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "10490598", "url": "https://glygen.org/publication/PubMed/10490598" } ] }, { "title": "Characterization of TCL, a new GTPase of the rho family related to TC10 andCcdc42.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Vignal E, De Toledo M, Comunale F, Ladopoulou A, Gauthier-Rouviere C, Blangy A, Fort P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "10967094", "url": "https://glygen.org/publication/PubMed/10967094" } ] }, { "title": "The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Torres J, Pulido R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "11035045", "url": "https://glygen.org/publication/PubMed/11035045" } ] }, { "title": "Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue.", "journal": "Journal of human genetics", "date": "2000", "authors": "Osada N, Kusuda J, Suzuki Y, Sugano S, Hashimoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "11185749", "url": "https://glygen.org/publication/PubMed/11185749" } ] }, { "title": "Wrch-1, a novel member of the Rho gene family that is regulated by Wnt-1.", "journal": "Genes & development", "date": "2001", "authors": "Tao W, Pennica D, Xu L, Kalejta RF, Levine AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "11459829", "url": "https://glygen.org/publication/PubMed/11459829" } ] }, { "title": "N4WBP5, a potential target for ubiquitination by the Nedd4 family of proteins, is a novel Golgi-associated protein.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Harvey KF, Shearwin-Whyatt LM, Fotia A, Parton RG, Kumar S", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "11748237", "url": "https://glygen.org/publication/PubMed/11748237" } ] }, { "title": "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel.", "journal": "Am. J. Physiol.", "date": "2002", "authors": "McDonald FJ, Western AH, McNeil JD, Thomas BC, Olson DR, Snyder PM", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" } ], "reference": [ { "type": "PubMed", "id": "12167593", "url": "https://glygen.org/publication/PubMed/12167593" } ] }, { "title": "The TC10-interacting protein CIP4/2 is required for insulin-stimulated Glut4 translocation in 3T3L1 adipocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Chang L, Adams RD, Saltiel AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "12242347", "url": "https://glygen.org/publication/PubMed/12242347" } ] }, { "title": "Direct identification of PTEN phosphorylation sites.", "journal": "FEBS letters", "date": "2002", "authors": "Miller SJ, Lou DY, Seldin DC, Lane WS, Neel BG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "12297295", "url": "https://glygen.org/publication/PubMed/12297295" } ] }, { "title": "Adenovirus protein involved in virus internalization recruits ubiquitin-protein ligases.", "journal": "Biochemistry", "date": "2002", "authors": "Galinier Richard, Gout Evelyne, Lortat-Jacob Hugues, Wood Jonathan, Chroboczek Jadwiga", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "12450395", "url": "https://glygen.org/publication/PubMed/12450395" } ] }, { "title": "Small GTPase Tc10 and its homologue RhoT induce N-WASP-mediated long process formation and neurite outgrowth.", "journal": "Journal of cell science", "date": "2003", "authors": "Abe T, Kato M, Miki H, Takenawa T, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "12456725", "url": "https://glygen.org/publication/PubMed/12456725" } ] }, { "title": "TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport.", "journal": "The EMBO journal", "date": "2003", "authors": "Chiang SH, Hwang J, Legendre M, Zhang M, Kimura A, Saltiel AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "12773384", "url": "https://glygen.org/publication/PubMed/12773384" } ] }, { "title": "Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology.", "journal": "FEBS letters", "date": "2004", "authors": "Ruusala A, Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "15304341", "url": "https://glygen.org/publication/PubMed/15304341" } ] }, { "title": "Wrch1 is a GTPase-deficient Cdc42-like protein with unusual binding characteristics and cellular effects.", "journal": "Experimental cell research", "date": "2004", "authors": "Saras J, Wollberg P, Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "15350535", "url": "https://glygen.org/publication/PubMed/15350535" } ] }, { "title": "Periodic Delta-like 4 expression in developing retinal arteries.", "journal": "Gene expression patterns : GEP", "date": "2004", "authors": "Claxton S, Fruttiger M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "15533827", "url": "https://glygen.org/publication/PubMed/15533827" } ] }, { "title": "Regulation of cystic fibrosis transmembrane regulator trafficking and protein expression by a Rho family small GTPase TC10.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Cheng J, Wang H, Guggino WB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "15546864", "url": "https://glygen.org/publication/PubMed/15546864" } ] }, { "title": "Atypical mechanism of regulation of the Wrch-1 Rho family small GTPase.", "journal": "Current biology : CB", "date": "2004", "authors": "Shutes A, Berzat AC, Cox AD, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "15556869", "url": "https://glygen.org/publication/PubMed/15556869" } ] }, { "title": "Zizimin2: a novel, DOCK180-related Cdc42 guanine nucleotide exchange factor expressed predominantly in lymphocytes.", "journal": "FEBS letters", "date": "2005", "authors": "Nishikimi A, Meller N, Uekawa N, Isobe K, Schwartz MA, Maruyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "15710388", "url": "https://glygen.org/publication/PubMed/15710388" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Asef is a Cdc42-specific guanine nucleotide exchange factor.", "journal": "Biological chemistry", "date": "2007", "authors": "Gotthardt K, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "17214551", "url": "https://glygen.org/publication/PubMed/17214551" } ] }, { "title": "NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN.", "journal": "Cell", "date": "2007", "authors": "Wang X, Trotman LC, Koppie T, Alimonti A, Chen Z, Gao Z, Wang J, Erdjument-Bromage H, Tempst P, Cordon-Cardo C, Pandolfi PP, Jiang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "17218260", "url": "https://glygen.org/publication/PubMed/17218260" } ] }, { "title": "The atypical Rho family GTPase Wrch-1 regulates focal adhesion formation and cell migration.", "journal": "Journal of cell science", "date": "2007", "authors": "Chuang YY, Valster A, Coniglio SJ, Backer JM, Symons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "17504809", "url": "https://glygen.org/publication/PubMed/17504809" } ] }, { "title": "Autoinhibition of the HECT-type ubiquitin ligase Smurf2 through its C2 domain.", "journal": "Cell", "date": "2007", "authors": "Wiesner S, Ogunjimi AA, Wang HR, Rotin D, Sicheri F, Wrana JL, Forman-Kay JD", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "17719543", "url": "https://glygen.org/publication/PubMed/17719543" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "The transforming Rho family GTPase Wrch-1 disrupts epithelial cell tight junctions and epithelial morphogenesis.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Brady DC, Alan JK, Madigan JP, Fanning AS, Cox AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "19064640", "url": "https://glygen.org/publication/PubMed/19064640" } ] }, { "title": "Cross-talk between tumor and endothelial cells involving the Notch3-Dll4 interaction marks escape from tumor dormancy.", "journal": "Cancer research", "date": "2009", "authors": "Indraccolo S, Minuzzo S, Masiero M, Pusceddu I, Persano L, Moserle L, Reboldi A, Favaro E, Mecarozzi M, Di Mario G, Screpanti I, Ponzoni M, Doglioni C, Amadori A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "19208840", "url": "https://glygen.org/publication/PubMed/19208840" } ] }, { "title": "TC10 controls human myofibril organization and is activated by the sarcomeric RhoGEF obscurin.", "journal": "Journal of cell science", "date": "2009", "authors": "Coisy-Quivy M, Touzet O, Bourret A, Hipskind RA, Mercier J, Fort P, Philips A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "19258391", "url": "https://glygen.org/publication/PubMed/19258391" } ] }, { "title": "WWP2 promotes degradation of transcription factor OCT4 in human embryonic stem cells.", "journal": "Cell research", "date": "2009", "authors": "Xu H, Wang W, Li C, Yu H, Yang A, Wang B, Jin Y", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "19274063", "url": "https://glygen.org/publication/PubMed/19274063" } ] }, { "title": "Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins.", "journal": "EMBO reports", "date": "2009", "authors": "Mund T, Pelham HR", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "19343052", "url": "https://glygen.org/publication/PubMed/19343052" } ] }, { "title": "Rak functions as a tumor suppressor by regulating PTEN protein stability and function.", "journal": "Cancer cell", "date": "2009", "authors": "Yim EK, Peng G, Dai H, Hu R, Li K, Lu Y, Mills GB, Meric-Bernstam F, Hennessy BT, Craven RJ, Lin SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "19345329", "url": "https://glygen.org/publication/PubMed/19345329" } ] }, { "title": "X-linked inhibitor of apoptosis protein (XIAP) regulates PTEN ubiquitination, content, and compartmentalization.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Van Themsche C, Leblanc V, Parent S, Asselin E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "19473982", "url": "https://glygen.org/publication/PubMed/19473982" } ] }, { "title": "The HECT-type E3 ubiquitin ligase AIP2 inhibits activation-induced T-cell death by catalyzing EGR2 ubiquitination.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Chen A, Gao B, Zhang J, McEwen T, Ye SQ, Zhang D, Fang D", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "19651900", "url": "https://glygen.org/publication/PubMed/19651900" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Wang Z, Kumamoto Y, Wang P, Gan X, Lehmann D, Smrcka AV, Cohn L, Iwasaki A, Li L, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "19713215", "url": "https://glygen.org/publication/PubMed/19713215" } ] }, { "title": "Activation of the PI3K pathway in cancer through inhibition of PTEN by exchange factor P-REX2a.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Fine B, Hodakoski C, Koujak S, Su T, Saal LH, Maurer M, Hopkins B, Keniry M, Sulis ML, Mense S, Hibshoosh H, Parsons R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "19729658", "url": "https://glygen.org/publication/PubMed/19729658" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00308-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Regulation of the Rho family small GTPase Wrch-1/RhoU by C-terminal tyrosine phosphorylation requires Src.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Alan JK, Berzat AC, Dewar BJ, Graves LM, Cox AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "20547754", "url": "https://glygen.org/publication/PubMed/20547754" } ] }, { "title": "Interactions of ErbB4 and Kap1 connect the growth factor and DNA damage response pathways.", "journal": "Mol. Cancer Res.", "date": "2010", "authors": "Gilmore-Hebert M, Ramabhadran R, Stern DF", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "20858735", "url": "https://glygen.org/publication/PubMed/20858735" } ] }, { "title": "Multiple interactions between the ESCRT machinery and arrestin-related proteins: implications for PPXY-dependent budding.", "journal": "J. Virol.", "date": "2011", "authors": "Rauch S, Martin-Serrano J", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "21191027", "url": "https://glygen.org/publication/PubMed/21191027" } ] }, { "title": "Selective targeting of activating and inhibitory Smads by distinct WWP2 ubiquitin ligase isoforms differentially modulates TGFbeta signalling and EMT.", "journal": "Oncogene", "date": "2011", "authors": "Soond SM, Chantry A", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" } ], "reference": [ { "type": "PubMed", "id": "21258410", "url": "https://glygen.org/publication/PubMed/21258410" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Mechanistic insights into specificity, activity, and regulatory elements of the regulator of G-protein signaling (RGS)-containing Rho-specific guanine nucleotide exchange factors (GEFs) p115, PDZ-RhoGEF (PRG), and leukemia-associated RhoGEF (LARG).", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Jaiswal M, Gremer L, Dvorsky R, Haeusler LC, Cirstea IC, Uhlenbrock K, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "21454492", "url": "https://glygen.org/publication/PubMed/21454492" } ] }, { "title": "GRB2 couples RhoU to epidermal growth factor receptor signaling and cell migration.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Zhang JS, Koenig A, Young C, Billadeau DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "21508312", "url": "https://glygen.org/publication/PubMed/21508312" } ] }, { "title": "WWP2 is an E3 ubiquitin ligase for PTEN.", "journal": "Nature cell biology", "date": "2011", "authors": "Maddika S, Kavela S, Rani N, Palicharla VR, Pokorny JL, Sarkaria JN, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "21532586", "url": "https://glygen.org/publication/PubMed/21532586" } ] }, { "title": "ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Naji L, Pacholsky D, Aspenstrom P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "21565175", "url": "https://glygen.org/publication/PubMed/21565175" } ] }, { "title": "SCFFBXL(1)(5) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1.", "journal": "The EMBO journal", "date": "2011", "authors": "Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] }, { "title": "Formation and release of arrestin domain-containing protein 1-mediated microvesicles (ARMMs) at plasma membrane by recruitment of TSG101 protein.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2012", "authors": "Nabhan JF, Hu R, Oh RS, Cohen SN, Lu Q", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "22315426", "url": "https://glygen.org/publication/PubMed/22315426" } ] }, { "title": "The chaperone-assisted E3 ligase C terminus of Hsc70-interacting protein (CHIP) targets PTEN for proteasomal degradation.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Ahmed SF, Deb S, Paul I, Chatterjee A, Mandal T, Chatterjee U, Ghosh MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "22427670", "url": "https://glygen.org/publication/PubMed/22427670" } ] }, { "title": "RhoJ regulates melanoma chemoresistance by suppressing pathways that sense DNA damage.", "journal": "Cancer research", "date": "2012", "authors": "Ho H, Aruri J, Kapadia R, Mehr H, White MA, Ganesan AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "22971344", "url": "https://glygen.org/publication/PubMed/22971344" } ] }, { "title": "Arhgef15 promotes retinal angiogenesis by mediating VEGF-induced Cdc42 activation and potentiating RhoJ inactivation in endothelial cells.", "journal": "PloS one", "date": "2012", "authors": "Kusuhara S, Fukushima Y, Fukuhara S, Jakt LM, Okada M, Shimizu Y, Hata M, Nishida K, Negi A, Hirashima M, Mochizuki N, Nishikawa S, Uemura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "23029280", "url": "https://glygen.org/publication/PubMed/23029280" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Mammalian alpha arrestins link activated seven transmembrane receptors to Nedd4 family e3 ubiquitin ligases and interact with beta arrestins.", "journal": "PLoS ONE", "date": "2012", "authors": "Shea FF, Rowell JL, Li Y, Chang TH, Alvarez CE", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "23236378", "url": "https://glygen.org/publication/PubMed/23236378" } ] }, { "title": "Deciphering the molecular and functional basis of Dbl family proteins: a novel systematic approach toward classification of selective activation of the Rho family proteins.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Jaiswal M, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "23255595", "url": "https://glygen.org/publication/PubMed/23255595" } ] }, { "title": "RFP-mediated ubiquitination of PTEN modulates its effect on AKT activation.", "journal": "Cell research", "date": "2013", "authors": "Lee JT, Shan J, Zhong J, Li M, Zhou B, Zhou A, Parsons R, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "23419514", "url": "https://glygen.org/publication/PubMed/23419514" } ] }, { "title": "Deubiquitylation and stabilization of PTEN by USP13.", "journal": "Nature cell biology", "date": "2013", "authors": "Zhang J, Zhang P, Wei Y, Piao HL, Wang W, Maddika S, Wang M, Chen D, Sun Y, Hung MC, Chen J, Ma L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "24270891", "url": "https://glygen.org/publication/PubMed/24270891" } ] }, { "title": "Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Mayer S, Kumar R, Jaiswal M, Soykan T, Ahmadian MR, Brose N, Betz H, Rhee JS, Papadopoulos T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "24297911", "url": "https://glygen.org/publication/PubMed/24297911" } ] }, { "title": "IQGAP1 is a key node within the small GTPase network.", "journal": "Small GTPases", "date": "2013", "authors": "Jacquemet G, Humphries MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "24355937", "url": "https://glygen.org/publication/PubMed/24355937" } ] }, { "title": "Regulation of PTEN inhibition by the pleckstrin homology domain of P-REX2 during insulin signaling and glucose homeostasis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Hodakoski C, Hopkins BD, Barrows D, Mense SM, Keniry M, Anderson KE, Kern PA, Hawkins PT, Stephens LR, Parsons R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "24367090", "url": "https://glygen.org/publication/PubMed/24367090" } ] }, { "title": "Regulated proteolysis of NOTCH2 and NOTCH3 receptors by ADAM10 and presenilins.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Groot AJ, Habets R, Yahyanejad S, Hodin CM, Reiss K, Saftig P, Theys J, Vooijs M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "24842903", "url": "https://glygen.org/publication/PubMed/24842903" } ] }, { "title": "EGFR blockade enriches for lung cancer stem-like cells through Notch3-dependent signaling.", "journal": "Cancer research", "date": "2014", "authors": "Arasada RR, Amann JM, Rahman MA, Huppert SS, Carbone DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "25125655", "url": "https://glygen.org/publication/PubMed/25125655" } ] }, { "title": "Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer.", "journal": "PLoS genetics", "date": "2014", "authors": "Jung JG, Stoeck A, Guan B, Wu RC, Zhu H, Blackshaw S, Shih IeM, Wang TL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "25356737", "url": "https://glygen.org/publication/PubMed/25356737" } ] }, { "title": "Poly-ADP ribosylation of PTEN by tankyrases promotes PTEN degradation and tumor growth.", "journal": "Genes & development", "date": "2015", "authors": "Li N, Zhang Y, Han X, Liang K, Wang J, Feng L, Wang W, Songyang Z, Lin C, Yang L, Yu Y, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "25547115", "url": "https://glygen.org/publication/PubMed/25547115" } ] }, { "title": "Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Papadopoulos T, Schemm R, Grubmuller H, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "25678704", "url": "https://glygen.org/publication/PubMed/25678704" } ] }, { "title": "PI3K/AKT activation induces PTEN ubiquitination and destabilization accelerating tumourigenesis.", "journal": "Nature communications", "date": "2015", "authors": "Lee MS, Jeong MH, Lee HW, Han HJ, Ko A, Hewitt SM, Kim JH, Chun KH, Chung JY, Lee C, Cho H, Song J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "26183061", "url": "https://glygen.org/publication/PubMed/26183061" } ] }, { "title": "Deubiquitylase OTUD3 regulates PTEN stability and suppresses tumorigenesis.", "journal": "Nature cell biology", "date": "2015", "authors": "Yuan L, Lv Y, Li H, Gao H, Song S, Zhang Y, Xing G, Kong X, Wang L, Li Y, Zhou T, Gao D, Xiao ZX, Yin Y, Wei W, He F, Zhang L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948751", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751" } ], "reference": [ { "type": "PubMed", "id": "26280536", "url": "https://glygen.org/publication/PubMed/26280536" } ] }, { "title": "The Formin FMNL3 Controls Early Apical Specification in Endothelial Cells by Regulating the Polarized Trafficking of Podocalyxin.", "journal": "Current biology : CB", "date": "2015", "authors": "Richards M, Hetheridge C, Mellor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "26299518", "url": "https://glygen.org/publication/PubMed/26299518" } ] }, { "title": "Structure of the HECT domain of human WWP2.", "journal": "Acta Crystallogr. F", "date": "2015", "authors": "Gong Wei, Zhang Xiaodan, Zhang Wen, Li Jie, Li Ze", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "26457515", "url": "https://glygen.org/publication/PubMed/26457515" } ] }, { "title": "PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion.", "journal": "The Journal of cell biology", "date": "2015", "authors": "Dart AE, Box GM, Court W, Gale ME, Brown JP, Pinder SE, Eccles SA, Wells CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "26598620", "url": "https://glygen.org/publication/PubMed/26598620" } ] }, { "title": "Deciphering the Molecular and Functional Basis of RHOGAP Family Proteins: A SYSTEMATIC APPROACH TOWARD SELECTIVE INACTIVATION OF RHO FAMILY PROTEINS.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Amin E, Jaiswal M, Derewenda U, Reis K, Nouri K, Koessmeier KT, Aspenstrom P, Somlyo AV, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "27481945", "url": "https://glygen.org/publication/PubMed/27481945" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00308", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00308" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.", "journal": "Nature cell biology", "date": "2020", "authors": "Bagci H, Sriskandarajah N, Robert A, Boulais J, Elkholi IE, Tran V, Lin ZY, Thibault MP, Dube N, Faubert D, Hipfner DR, Gingras AC, Cote JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "31871319", "url": "https://glygen.org/publication/PubMed/31871319" } ] }, { "title": "RhoJ Regulates alpha5beta1 Integrin Trafficking to Control Fibronectin Remodeling during Angiogenesis.", "journal": "Current biology : CB", "date": "2020", "authors": "Sundararaman A, Fukushima Y, Norman JC, Uemura A, Mellor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "32302585", "url": "https://glygen.org/publication/PubMed/32302585" } ] }, { "title": "The atypical Rho GTPase RhoU interacts with intersectin-2 to regulate endosomal recycling pathways.", "journal": "Journal of cell science", "date": "2020", "authors": "Gubar O, Croise P, Kropyvko S, Gryaznova T, Toth P, Blangy A, Vitale N, Rynditch A, Gasman S, Ory S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420" } ], "reference": [ { "type": "PubMed", "id": "32737221", "url": "https://glygen.org/publication/PubMed/32737221" } ] }, { "title": "Enzymatic analysis of WWP2 E3 ubiquitin ligase using protein microarrays identifies autophagy-related substrates.", "journal": "The Journal of biological chemistry", "date": "2022", "authors": "Jiang H, Chiang CY, Chen Z, Nathan S, D'Agostino G, Paulo JA, Song G, Zhu H, Gabelli SB, Cole PA", "evidence": [ { "database": "iPTMnet", "id": "O00308", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00308" } ], "reference": [ { "type": "PubMed", "id": "35331737", "url": "https://glygen.org/publication/PubMed/35331737" } ] }, { "title": "WWP2 drives the progression of gastric cancer by facilitating the ubiquitination and degradation of LATS1 protein.", "journal": "Cell communication and signaling : CCS", "date": "2023-02-17", "authors": "Zou Jianping, Zhou Ling, Le Yi, Fang Zhi, Zhong Min, Nie Fengting, Wei Xianpin, Zhang Xiaomei, Chen Zhen, Cai Lingling, Wang Heng, Xiong Jianping, Fang Ziling, Xiang Xiaojun", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" } ], "reference": [ { "type": "PubMed", "id": "36803368", "url": "https://glygen.org/publication/PubMed/36803368" } ] }, { "title": "Down-regulation of WWP2 aggravates Type 2 diabetes mellitus-induced vascular endothelial injury through modulating ubiquitination and degradation of DDX3X.", "journal": "Cardiovascular diabetology", "date": "2023-05-06", "authors": "You Shilong, Xu Jiaqi, Yin Zeyu, Wu Boquan, Wang Pengbo, Hao Mingjun, Cheng Cheng, Liu Mengke, Zhao Yuanhui, Jia Pengyu, Jiang Hongkun, Li Da, Cao Liu, Zhang Xingang, Zhang Ying, Sun Yingxian, Zhang Naijin", "evidence": [ { "database": "RefSeq", "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382" } ], "reference": [ { "type": "PubMed", "id": "37149668", "url": "https://glygen.org/publication/PubMed/37149668" } ] }, { "title": "Direct involvement of the small GTP-binding protein Rho in lbc oncogene function.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Zheng Y, Olson MF, Hall A, Cerione RA, Toksoz D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "7721814", "url": "https://glygen.org/publication/PubMed/7721814" } ] }, { "title": "Identification of novel human WW domain-containing proteins by cloning of ligand targets.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Pirozzi G, McConnell SJ, Uveges AJ, Carter JM, Sparks AB, Kay BK, Fowlkes DM", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "9169421", "url": "https://glygen.org/publication/PubMed/9169421" } ] }, { "title": "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.", "journal": "Mol. Cell. Neurosci.", "date": "1998", "authors": "Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "reference": [ { "type": "PubMed", "id": "9647693", "url": "https://glygen.org/publication/PubMed/9647693" } ] }, { "title": "Cloning and characterization of GEF-H1, a microtubule-associated guanine nucleotide exchange factor for Rac and Rho GTPases.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Ren Y, Li R, Zheng Y, Busch H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406" } ], "reference": [ { "type": "PubMed", "id": "9857026", "url": "https://glygen.org/publication/PubMed/9857026" } ] } ], "pathway": [ { "id": "hsa:11060", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11060", "resource": "KEGG Pathway" }, { "id": "R-HSA-8948751", "name": "Regulation of PTEN stability and activity", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948751", "resource": "Reactome", "description": "Regulation of PTEN stability and activity" }, { "id": "R-HSA-9013406", "name": "RHOQ GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013406", "resource": "Reactome", "description": "RHOQ GTPase cycle" }, { "id": "R-HSA-9013409", "name": "RHOJ GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409", "resource": "Reactome", "description": "RHOJ GTPase cycle" }, { "id": "R-HSA-9013420", "name": "RHOU GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013420", "resource": "Reactome", "description": "RHOU GTPase cycle" }, { "id": "R-HSA-9013507", "name": "NOTCH3 Activation and Transmission of Signal to the Nucleus", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507", "resource": "Reactome", "description": "NOTCH3 Activation and Transmission of Signal to the Nucleus" } ], "orthologs": [ { "uniprot_canonical_ac": "B4F767-1", "protein_name": "E3 ubiquitin-protein ligase", "gene_name": "Wwp2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLRVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEVIVLNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKMENTQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGSVPNGSAVTDGSQPPSRESSGTALAPETRHQPPSTNCFGGRSRTHRHSGGSARTATATGEQSPGARNRHRQPVKNPSSSGLANGTVSEEPTTASDPEELSVVGVTSPPAAASSVSPNPNTTSLPAPSTPAEGEEPSTSGTQQLPAAAQAPDALPAGWEQRQLPNGRVYYVDHNTKTTTWERPLPPGWEKRTDPRGRFYYVDHNTRTTTWQRPTAEYVRNYEQWQSQRNQLQGAMQHFSQRFLYQSSSASTDHDPLGPLPPGWEKRQDNGRVYYVNHNTRTTQWEDPRTQGMIQEPALPPGWEMKYTSEGVRYFVDHNTRTTTFKDPRPGFESGTKQGSPGAYERSFRWKYHQFRFLCHSNALPSHVKISVSRQTLFEDSFQQIMNMKPYDLRRRLYIIMRGEEGLDYGGIAREWFFLLSHEVLNPMYCLFEYAGKNNYCLQINPASSINPDHLTYFRFIGRFIAMALYHGKFIDTGFTLPFYKRMLNKRPTLRDLESIDPEFYNSIIWIKENNLDECGLELFFIQDMEILGKVTTHELKEGGENIRVTEENKEEYIMLLTDWRFTRGVEEQTKAFLDGFNEVAPLEWLRYFDEKELELMLCGMQEIDMSDWQKNAIYRHYTKSSKQIQWFWQVVKEMDNEKRIRLLQFVTGTCRLPVGGFAELIGSNGPQKFCIDRVGKETWLPRSHTCFNRLDLPPYKSYEQLKEKLLYAIEETEGFGQE", "length": 870 }, "evidence": [ { "id": "45924111", "url": "http://www.informatics.jax.org/homology/45924111", "database": "MGI" }, { "id": "O00308", "url": "https://omabrowser.org/oma/group/O00308/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9DBH0-1", "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "gene_name": "Wwp2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASASSSRAGVALPFEKSQLTLKVVSAKPKVHNRQPRINSYVEVAVDGLPSETKKTGKRIGSSELLWNEIIVLNVTAQSHLDLKVWSCHTLRNELLGTASVNLSNVLKNNGGKMENTQLTLNLQTENKGSVVSGGELTIFLDGPTVDLGSVPNGSAVTDGSQPPSRESSGTAIAPETRHQPPSTNCFGGRSRTHRHSGGSARTATAASEQSPGARNRHRQPVKNSSSSGLANGTVNEEPTPASEPEESSVVGVTSLPAAALSVSSNPNTTSLPAQSTPAEGEEASTSGTQQLPAAAQAPDALPAGWEQRELPNGRVYYVDHNTKTTTWERPLPPGWEKRTDPRGRFYYVDHNTRTTTWQRPTAEYVRNYEQWQSQRNQLQGAMQHFSQRFLYQSSSASTDHDPLGPLPPGWEKRQDNGRVYYVNHNTRTTQWEDPRTQGMIQEPALPPGWEMKYTSEGVRYFVDHNTRTTTFKDPRPGFESGTKQGSPGAYDRSFRWKYHQFRFLCHSNALPSHVKISVSRQTLFEDSFQQIMNMKPYDLRRRLYIIMRGEEGLDYGGIAREWFFLLSHEVLNPMYCLFEYAGKNNYCLQINPASSINPDHLTYFRFIGRFIAMALYHGKFIDTGFTLPFYKRMLNKRPTLKDLESIDPEFYNSIVWIKENNLEECGLELFFIQDMEILGKVTTHELKEGGENIRVTEENKEEYIMLLTDWRFTRGVEEQTKAFLDGFNEVAPLEWLRYFDEKELELMLCGMQEIDMSDWQKNAIYRHYTKSSKQIQWFWQVVKEMDNEKRIRLLQFVTGTCRLPVGGFAELIGSNGPQKFCIDRVGKETWLPRSHTCFNRLDLPPYKSYEQLKEKLLYAIEETEGFGQE", "length": 870 }, "evidence": [ { "id": "45924111", "url": "http://www.informatics.jax.org/homology/45924111", "database": "MGI" }, { "id": "O00308", "url": "https://omabrowser.org/oma/group/O00308/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 19, "go_terms": [ { "name": "protein modification process", "id": "GO:0036211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036211", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of transporter activity", "id": "GO:0032410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032410", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "regulation of potassium ion transmembrane transporter activity", "id": "GO:1901016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901016", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "viral entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "extracellular transport", "id": "GO:0006858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006858", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "regulation of monoatomic ion transmembrane transport", "id": "GO:0034765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034765", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of DNA-binding transcription factor activity", "id": "GO:0043433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043433", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "negative regulation of protein transport", "id": "GO:0051224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051224", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "transcription factor binding", "id": "GO:0008134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008134", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 102, "end_pos": 104, "annotation": "n_glycosylation_sequon" }, { "start_pos": 153, "end_pos": 155, "annotation": "n_glycosylation_sequon" }, { "start_pos": 232, "end_pos": 234, "annotation": "n_glycosylation_sequon" }, { "start_pos": 268, "end_pos": 270, "annotation": "n_glycosylation_sequon" }, { "start_pos": 74, "end_pos": 76, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Autoubiquitinated. Ubiquitinated by the SCF(FBXL15) complex, leading to its degradation by the proteasome.", "evidence": [ { "database": "UniProtKB", "id": "O00308", "url": "https://www.uniprot.org/uniprot/O00308" }, { "database": "PubMed", "id": "19343052", "url": "https://glygen.org/publication/PubMed/19343052" }, { "database": "PubMed", "id": "21572392", "url": "https://glygen.org/publication/PubMed/21572392" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-6807134", "name": "NEDD4, WWP2, CHIP and XIAP polyubiquitinate PTEN", "equation": "", "summary": "Several ubiquitin ligases, including NEDD4 (Wang et al. 2007), STUB1 (CHIP) (Ahmed et al. 2012), WWP2 (Maddika et al. 2011) and XIAP (Van Themsche et al. 2009) can polyubiquitinate PTEN, targeting it for degradation.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-6807280" ], "enzyme_list": [ "Q9UNE7-1", "O00308-1", "P98170-1", "P60484-1", "P46934-1" ], "evidence": [ { "id": "R-HSA-6807134", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807134" } ] }, { "id": "R-HSA-9017507", "name": "RHOJ binds effectors at the plasma membrane", "equation": "", "summary": "Active GTP bound RHOJ binds the following effectors:
FMNL3 (Richards et al. 2015)
PAK1 (Vignal et al. 2000, Ho et al. 2012; Bagci et al. 2020)
PAK3 (Sundararaman et al. 2020)
WIP2 WASP complex, through direct interaction with WAS (WASP) (Vignal et al. 2000), WASL (Abe et al. 2003, Bagci et al. 2020) and WIPF2 (Bagci et al. 2020)

The following RHOJ effectors are annotated as candidates because the knowledge on their relationship with RHOJ is limited:
ARHGAP1 (Bagci et al. 2020)
ARHGEF7 (Bagci et al. 2020)
ARL13B (Bagci et al. 2020)
CAV1 (Bagci et al. 2020)
CDC42 (Bagci et al. 2020)
CDC42BPA (Bagci et al. 2020)
CDC42BPB (Bagci et al. 2020)
CDC42EP1 (Bagci et al. 2020)
CPNE8 (Bagci et al. 2020)
DEPDC1B (Bagci et al. 2020)
DIAPH3 (Bagci et al. 2020)
FNBP1 (Bagci et al. 2020)
FNBP1L (Bagci et al. 2020)
GIT1 (Bagci et al. 2020)
GIT2 (Bagci et al. 2020)
GJA1 (Bagci et al. 2020)
IQGAP3 (Bagci et al. 2020)
JUP (Bagci et al. 2020)
LAMTOR1 (Bagci et al. 2020)
MPP7 (Bagci et al. 2020)
NIPSNAP2 (Bagci et al. 2020)
PAK2 (Bagci et al. 2020)
PAK4 (Bagci et al. 2020)
RAB7A (Bagci et al. 2020)
SCRIB (Bagci et al. 2020)
SLC1A5 (Bagci et al. 2020)
SLC4A7 (Bagci et al. 2020)
SNAP23 (Bagci et al. 2020)
STEAP3 (Bagci et al. 2020)
STOM (Bagci et al. 2020)
TFRC (Bagci et al. 2020)
TMPO (Bagci et al. 2020)
VAMP3 (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)
WWP2 (Bagci et al. 2020)

In the screen by Bagci et al. 2020, active RHOJ was found to interact with LBR and YKT6, two proteins that localize to the endoplasmic reticulum membrane. However, since RHOJ localization at the endoplasmic reticulum membrane has not been reported, these two interactions have not been annotated.

RHOJ does not interact with the following RHO GTPase effectors:
ARFGAP2 (Bagci et al. 2020)
ARFGAP3 (Bagci et al. 2020)
CDC42EP2 (Bagci et al. 2020)
CDC42EP4 (Bagci et al. 2020)
CDC42SE2 (Bagci et al. 2020)
FMNL1 (Bagci et al. 2020)
FMNL2 (Bagci et al. 2020)
GFOD1 (Bagci et al. 2020)
GOLGA8R (Bagci et al. 2020)
KCTD3 (Bagci et al. 2020)
KIAA0355 (Bagci et al. 2020)
PLEKHG3 (Bagci et al. 2020)
ROCK1 (Bagci et al. 2020)
ROCK2 (Bagci et al. 2020)
SH3PXD2A (Bagci et al. 2020)
SHKBP1 (Bagci et al. 2020)
SLK (Bagci et al. 2020)
WDR81 (Bagci et al. 2020)
WDR91 (Bagci et al. 2020)
WIPF1 (Bagci et al. 2020)
WIPF3 (Bagci et al. 2020)", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P60953-2", "O00308-1", "Q13153-1", "Q13177-1", "Q9Y5S2-1", "O75914-1", "O96013-1", "Q5VT25-1", "P51149-1", "Q658P3-1" ], "evidence": [ { "id": "R-HSA-9017507", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9017507" } ] }, { "id": "R-HSA-9018746", "name": "RHOQ binds effectors at the plasma membrane", "equation": "", "summary": "Active GTP bound RHOQ binds to the following effectors at the plasma membrane:
ARHGAP33 (also known as TCGAP) (Chiang et al. 2003)
CDC42EP3 (also known as Borg2) (Joberty et al. 1999)
CDC42EP4 (also known as Borg4) (Joberty et al. 1999, Osada et al. 2000, Bagci et al. 2020)
IQGAP1 (Jacquemet and Humphries 2013)
PAK1 (Vignal et al. 2000; Bagci et al. 2020)
TRIP10 (Chang et al. 2002)

The following effectors were shown to bind to RHOQ in some but not all studies or have only reported in the high throughput screen by Bagci et al. 2020 and are annotated as candidates:
ARHGAP1 (Bagci et al. 2020)
ARHGEF7 (Bagci et al. 2020)
ARL13B (Bagci et al. 2020)
CAV1 (Bagci et al. 2020)
CDC42 (Bagci et al. 2020)
CDC42BPA (Bagci et al. 2020)
CDC42BPB (Bagci et al. 2020)
CDC42EP1 (Bagci et al. 2020)
CDC42EP2 (also known as Borg1) (RHOQ binding: Joberty et al. 1999, no RHOQ binding: Bagci et al. 2020)
CPNE8 (Bagci et al. 2020)
DEPDC1B (Bagci et al. 2020)
DIAPH3 (Bagci et al. 2020)
FNBP1 (Bagci et al. 2020)
GFOD1 (Bagci et al. 2020)
GIT1 (Bagci et al. 2020)
GIT2 (Bagci et al. 2020)
GJA1 (Bagci et al. 2020)
IQGAP3 (Bagci et al. 2020)
JUP (Bagci et al. 2020)
LAMTOR1 (Bagci et al. 2020)
MPP7 (Bagci et al. 2020)
PAK2 (Bagci et al. 2020)
PAK4 (Bagci et al. 2020)
PLEKHG3 (Bagci et al. 2020)
RAB7A (Bagci et al. 2020)
SCRIB (Bagci et al. 2020)
SLC1A5 (Bagci et al. 2020)
SLC4A7 (Bagci et al. 2020)
SNAP23 (Bagci et al. 2020)
STEAP3 (Bagci et al. 2020)
STOM (Bagci et al. 2020)
TFRC (Bagci et al. 2020)
VAMP3 (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)
WIP WASP complex component WASL (RHOQ binding: Abe et al. 2003; no RHOQ binding: Bagci et al. 2020)
WWP2 (Bagci et al. 2020)

RHOQ does not bind the following effectors:
ARFGAP2 (Bagci et al. 2020)
ARFGAP3 (Bagci et al. 2020)
CDC42EP5 (also known as Borg3) (Joberty et al. 1999)
CDC42SE2 (Bagci et al. 2020)
FNBP1L (Bagci et al. 2020)
GOLGA8R (Bagci et al. 2020)
KCTD3 (Bagci et al. 2020)
LBR (Bagci et al. 2020)
NIPSNAP2 (Bagci et al. 2020)
SH3PXD2A (Bagci et al. 2020)
SHKBP1 (Bagci et al. 2020)
TMPO (Bagci et al. 2020)
WDR81 (Bagci et al. 2020)
WDR91 (Bagci et al. 2020)
WIP WASP complex components WIPF1, WIPF2 and WIPF3 (Bagci et al. 2020)
YKT6 (Bagci et al. 2020)", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9NXC2-1", "P60953-2", "O00308-1", "Q13153-1", "Q13177-1", "Q9Y5S2-1", "O96013-1", "Q5VT25-1", "P51149-1", "Q658P3-1" ], "evidence": [ { "id": "R-HSA-9018746", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018746" } ] }, { "id": "R-HSA-9018766", "name": "RHOU binds effectors at the plasma membrane", "equation": "", "summary": "In its active GTP bound form, RHOU binds the following effectors:
ARHGAP30 (Naji et al. 2011; protein with GAP activity)
ARHGAP31 (Naji et al. 2011; protein with GAP activity)
GRB2 (Zhang et al. 2011; Bagci et al. 2020: weak binding)
ITSN2 (Gubar et al. 2020)
NCK2 (Saras et al. 2004; Bagci et al. 2020)
PAK1 (Tao et al. 2001; Shutes et al. 2004; Saras et al. 2004; Bagci et al. 2020)
PAK4 (Dart et al. 2015)
PAR6 (Brady et al. 2009)
PIK3R1 (Chuang et al. 2007; Bagci et al. 2020; protein with GAP activity)
PTK2B (Ruusala and Aspenstr\u00f6m 2008)


The following candidate RHOU effectors were identified in the high throughput screen by Bagci et al. 2020:
ARHGEF6 (Bagci et al. 2020)
ARHGEF7 (Bagci et al. 2020)
CDC42 (Bagci et al. 2020)
CLTC (Bagci et al. 2020)
DEPDC1B (Bagci et al. 2020; protein with GAP activity)
DLG5 (Bagci et al. 2020)
DST (Bagci et al. 2020)
EPHA2 (Bagci et al. 2020)
GIT1 (Bagci et al. 2020)
GIT2 (Bagci et al. 2020)
HGS (Bagci et al. 2020)
IQGAP1 (Bagci et al. 2020)
MYO6 (Bagci et al. 2020)
NCK1 (Bagci et al. 2020)
PAK2 (Bagci et al. 2020)
PAK3 (Bagci et al. 2020)
PIK3R2 (Bagci et al. 2020; protein with GAP activity)
PEAK1 (Bagci et al. 2020)
SPTAN1 (Bagci et al. 2020)
SPTBN1 (Bagci et al. 2020)
SRGAP2 (Bagci et al. 2020; protein with GAP activity)
STAM (Bagci et al. 2020)
STAM2 (Bagci et al. 2020)
TXNL1 (Bagci et al. 2020)
USP9X (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)
WDR6 (Bagci et al. 2020)
WWP2 (Bagci et al. 2020)

RHOU does not bind WASL, a component of the WIP WASP complex (Bagci et al. 2020) and also does not bind:
CCP110 (Bagci et al. 2020)
CEP97 (Bagci et al. 2020)
MAP3K21 (Bagci et al. 2020)
MYH11 (Bagci et al. 2020)
MYL12B (Bagci et al. 2020)
SH3RF1 (Bagci et al. 2020)
TPM3 (Bagci et al. 2020)
TPM4 (Bagci et al. 2020)
ZNF512B (Bagci et al. 2020)", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P60953-2", "O00308-1", "Q13153-1", "Q13177-1", "O75914-1", "O96013-1", "P29317-1", "Q14289-1", "Q93008-1" ], "evidence": [ { "id": "R-HSA-9018766", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018766" } ] }, { "id": "R-HSA-9021520", "name": "NOTCH3 binds WWP2", "equation": "", "summary": "WWP2, an E3 ubiquitin ligase, can interact with NOTCH3 cleavage products NEXT3 and NICD3 in the cytosol. The interaction involves the PPPY motif in the PEST domain of NOTCH3 (Jung et al. 2014).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00308-1" ], "evidence": [ { "id": "R-HSA-9021520", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9021520" } ] }, { "id": "R-HSA-9021523", "name": "WWP2 ubiquitinates NOTCH3", "equation": "", "summary": "WWP2, an E3 ubiquitin ligase, ubiquitinates NOTCH3 cleavage fragments NEXT3 and NICD3 in the cytosol, targeting them for lysosome-mediated degradation. WWP2 thus negatively regulates NOTCH3 signaling. WWP2 is a putative tumor suppressor whose deletions have been reported in the majority of ovarian carcinomas (Jung et al. 2014).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00308-1" ], "evidence": [ { "id": "R-HSA-9021523", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9021523" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-6807280", "participant_name": "PolyUb-PTEN [cytosol]", "crossref": [ { "id": "ENST00000371953", "database": "Ensembl", "url": "" }, { "id": "7JUL", "database": "PDB", "url": "" }, { "id": "1D5R", "database": "PDB", "url": "" }, { "id": "P60484", "database": "ZINC target", "url": "" }, { "id": "3.1.3.48", "database": "IntEnz", "url": "" }, { "id": "P60484", "database": "PRO", "url": "" }, { "id": "ENST00000688308", "database": "Ensembl", "url": "" }, { "id": "P60484", "database": "GeneCards", "url": "" }, { "id": "2497", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "ENSP00000508752", "database": "Ensembl", "url": "" }, { "id": "5BZX", "database": "PDB", "url": "" }, { "id": "P60484", "database": "Pharos - Targets", "url": "" }, { "id": "5BZZ", "database": "PDB", "url": "" }, { "id": "HMDBP01570", "database": "HMDB Protein", "url": "" }, { "id": "ENSG00000171862-PTEN", "database": "HPA", "url": "" }, { "id": "P60484", "database": "UniProt", "url": "" }, { "id": "7JTX", "database": "PDB", "url": "" }, { "id": "5BUG", "database": "PDB", "url": "" }, { "id": "15166", "database": "Orphanet", "url": "" }, { "id": "ENSP00000361021", "database": "Ensembl", "url": "" }, { "id": "7JUK", "database": "PDB", "url": "" }, { "id": "2KYL", "database": "PDB", "url": "" }, { "id": "7PC7", "database": "PDB", "url": "" }, { "id": "4O1V", "database": "PDB", "url": "" }, { "id": "NP_001291646.2", "database": "RefSeq", "url": "" }, { "id": "NP_001291647.1", "database": "RefSeq", "url": "" }, { "id": "NP_000305.3", "database": "RefSeq", "url": "" }, { "id": "ENSG00000171862", "database": "OpenTargets", "url": "" }, { "id": "7JVX", "database": "PDB", "url": "" }, { "id": "ENSG00000171862", "database": "Ensembl", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00308", "gene_name": "WWP2", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O00308", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00308" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "O00308", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00308" } ] } ] }, { "uniprot_ac": "O75914", "gene_name": "PAK3", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O75914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75914" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O75914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75914" } ] } ] }, { "uniprot_ac": "O96013", "gene_name": "PAK4", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O96013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96013" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O96013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96013" } ] } ] }, { "uniprot_ac": "P29317", "gene_name": "EPHA2", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] } ] }, { "uniprot_ac": "P46934", "gene_name": "NEDD4", "activity": [ { "ec_number": "2.3.2.26", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P46934", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46934" } ] }, { "ec_number": "2.3.2.26", "activity": "", "evidence": [ { "id": "P46934", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46934" } ] } ] }, { "uniprot_ac": "P51149", "gene_name": "RAB7A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] } ] }, { "uniprot_ac": "P60484", "gene_name": "PTEN", "activity": [ { "ec_number": "3.1.3.67", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + phosphate.", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] }, { "ec_number": "3.1.3.16", "activity": "H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate.", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] }, { "ec_number": "3.1.3.16", "activity": "", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] }, { "ec_number": "3.1.3.67", "activity": "", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] }, { "ec_number": "3.1.3.-", "activity": "", "evidence": [ { "id": "P60484", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60484" } ] } ] }, { "uniprot_ac": "P60953", "gene_name": "CDC42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] } ] }, { "uniprot_ac": "P98170", "gene_name": "XIAP", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P98170", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98170" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P98170", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98170" } ] } ] }, { "uniprot_ac": "Q13153", "gene_name": "PAK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13153" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13153" } ] } ] }, { "uniprot_ac": "Q13177", "gene_name": "PAK2", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13177" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13177" } ] } ] }, { "uniprot_ac": "Q14289", "gene_name": "PTK2B", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "Q14289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14289" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "Q14289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14289" } ] } ] }, { "uniprot_ac": "Q5VT25", "gene_name": "CDC42BPA", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q5VT25", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5VT25" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q5VT25", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5VT25" } ] } ] }, { "uniprot_ac": "Q658P3", "gene_name": "STEAP3", "activity": [ { "ec_number": "1.16.1.-", "activity": "", "evidence": [ { "id": "Q658P3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q658P3" } ] } ] }, { "uniprot_ac": "Q93008", "gene_name": "USP9X", "activity": [ { "ec_number": "3.4.19.12", "activity": "Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).", "evidence": [ { "id": "Q93008", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q93008" } ] }, { "ec_number": "3.4.19.12", "activity": "", "evidence": [ { "id": "Q93008", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q93008" } ] } ] }, { "uniprot_ac": "Q9NXC2", "gene_name": "GFOD1", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q9NXC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NXC2" } ] } ] }, { "uniprot_ac": "Q9UNE7", "gene_name": "STUB1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q9UNE7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNE7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q9UNE7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UNE7" } ] } ] }, { "uniprot_ac": "Q9Y5S2", "gene_name": "CDC42BPB", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q9Y5S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5S2" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q9Y5S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5S2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 59 ], "glycation_sites": [], "phosphorylation_sites": [ 7, 211, 369, 455, 467, 469 ], "sequon_annotation_sites": [ { "start_pos": 102, "end_pos": 104 }, { "start_pos": 153, "end_pos": 155 }, { "start_pos": 232, "end_pos": 234 }, { "start_pos": 268, "end_pos": 270 }, { "start_pos": 74, "end_pos": 76 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 82 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }