{ "uniprot_canonical_ac": "Q2TBE0-1", "uniprot_ac": "Q2TBE0", "uniprot_id": "C19L2_HUMAN", "mass": { "chemical_mass": 103787.0, "monoisotopic_mass": 103787.0 }, "refseq": { "ac": "NP_689647", "name": "CWF19-like protein 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689647" }, "gene_names": [ { "name": "CWF19L2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q2TBE0", "id": "Q2TBE0" }, { "name": "CWF19L2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689647", "id": "NP_689647" } ], "protein_names": [ { "name": "CWF19-like protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q2TBE0" }, { "name": "CWF19 like 2, cell cycle control", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689647", "id": "NP_689647" }, { "name": "CWF19-like protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689647", "id": "NP_689647" } ], "function": [ { "annotation": "Observational study of gene-disease association. 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q2TBE0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q2TBE0" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q2TBE0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q2TBE0" } ], "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": 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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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q2TBE0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q2TBE0" } ], "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", 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"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": "Q2TBE0", "url": "https://www.uniprot.org/uniprot/Q2TBE0" } ], "common_name": "Human" } ], "gene": [ { "name": "CWF19L2", "url": "https://www.uniprot.org/uniprot/Q2TBE0", "locus": { "chromosome": "11", "start_pos": 107326360, "end_pos": 107457825, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000152404", "url": "https://www.ensembl.org/id/ENSG00000152404" } ] } } ], "crossref": [ { "id": "ENSG00000152404", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000152404", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q2TBE0", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q2TBE0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CWF19L2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CWF19L2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "143884", "url": "https://www.ncbi.nlm.nih.gov/gene/143884", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "26508", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26508", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q2TBE0", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q2TBE0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006767", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006767", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006768", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006768", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036265", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036265", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040194", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040194", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:143884", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:143884", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_Q2TBE0", "url": "https://www.nextprot.org/entry/NX_Q2TBE0", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q2TBE0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TBE0", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FMKCLTR", "url": "https://omabrowser.org/oma/group/FMKCLTR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "54058at2759", "url": "http://www.orthodb.org/?query=54058at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12072", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12072", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12072:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12072:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6ID0", "url": "https://www.rcsb.org/structure/6ID0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ID1", "url": "https://www.rcsb.org/structure/6ID1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04676", "url": "http://pfam.xfam.org/family/PF04676", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF04677", "url": "http://pfam.xfam.org/family/PF04677", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q2TBE0", "url": "https://pharos.nih.gov/targets/Q2TBE0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q2TBE0", "url": "http://purl.obolibrary.org/obo/PR_Q2TBE0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_689647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689647", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YE03", "url": "https://www.uniprot.org/uniprot/H0YE03", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YE03-1", "url": "https://www.uniprot.org/uniprot/H0YE03-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3G7", "url": "https://www.uniprot.org/uniprot/H7C3G7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3G7-1", "url": "https://www.uniprot.org/uniprot/H7C3G7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2TBE0", "url": "https://www.uniprot.org/uniprot/Q2TBE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2TBE0-1", "url": "https://www.uniprot.org/uniprot/Q2TBE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2TBE0-2", "url": "https://www.uniprot.org/uniprot/Q2TBE0-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2TBE0-3", "url": "https://www.uniprot.org/uniprot/Q2TBE0-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKKKKDKHSKKAKKEKKKKSKKQKYEKNNESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPVNTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKFMGKTDGDYYTLDDMFVSKAAERERLGEEEENQRKKAIAEHRSLAAQMEKCLYCFDSSQFPKHLIVAIGVKVYLCLPNVRSLTEGHCLIVPLQHHRAATLLDEDIWEEIQMFRKSLVKMFEDKGLDCIFLETNMSMKKQYHMVYECIPLPKEVGDMAPIYFKKAIMESDEEWSMNKKLIDLSSKDIRKSVPRGLPYFSVDFGLHGGFAHVIEDQHKFPHYFGKEIIGGMLDIEPRLWRKGIRESFEDQRKKALQFAQWWKPYDFTKSKNY", "length": 894, "header": "sp|Q2TBE0-1|C19L2_HUMAN Isoform 1 of CWF19-like protein 2 OS=Homo sapiens OX=9606 GN=CWF19L2 PE=1 SV=4 CANONICAL=Q2TBE0-1" }, "isoforms": [ { "isoform_ac": "H0YE03-1", "url": "", "sequence": { "sequence": "VEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPVNTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKQLRENVLVKRKRTKGKKLLLSIGVLLHKWKNVCIVLTALNFPSILLLQ", "length": 553, "header": "tr|H0YE03-1|C19L2_HUMAN Computationally mapped isoform of CWF19-like protein 2 OS=Homo sapiens OX=9606 GN=CWF19L2 PE=1 SV=1 CANONICAL=Q2TBE0-1" }, "locus": { "chromosome": "11", "start_pos": 107443031, "end_pos": 107353535, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532251.1", "url": "https://www.ensembl.org/id/ENST00000532251.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434704.1", "url": "https://www.ensembl.org/id/ENSP00000434704.1" } ] } }, { "isoform_ac": "H7C3G7-1", "url": "", "sequence": { "sequence": "VEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPVNTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKFMGKTDGDYYTLDDMFVSKAAERERLGEEEENQRKKAIAEHRSLAAQMEKCLYCFDSSQFPKHLIVAIGVKVYLCLPNVRSLTEGHCLIVPLQHHRAATLLDEDIWEEIQIKSRTVIQ", "length": 623, "header": "tr|H7C3G7-1|C19L2_HUMAN Computationally mapped isoform of CWF19-like protein 2 OS=Homo sapiens OX=9606 GN=CWF19L2 PE=1 SV=1 CANONICAL=Q2TBE0-1" }, "locus": { "chromosome": "11", "start_pos": 107443031, "end_pos": 107345467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431778.5", "url": "https://www.ensembl.org/id/ENST00000431778.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411736.1", "url": "https://www.ensembl.org/id/ENSP00000411736.1" } ] } }, { "isoform_ac": "Q2TBE0-1", "url": "", "sequence": { "sequence": "MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKKKKDKHSKKAKKEKKKKSKKQKYEKNNESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPVNTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKFMGKTDGDYYTLDDMFVSKAAERERLGEEEENQRKKAIAEHRSLAAQMEKCLYCFDSSQFPKHLIVAIGVKVYLCLPNVRSLTEGHCLIVPLQHHRAATLLDEDIWEEIQMFRKSLVKMFEDKGLDCIFLETNMSMKKQYHMVYECIPLPKEVGDMAPIYFKKAIMESDEEWSMNKKLIDLSSKDIRKSVPRGLPYFSVDFGLHGGFAHVIEDQHKFPHYFGKEIIGGMLDIEPRLWRKGIRESFEDQRKKALQFAQWWKPYDFTKSKNY", "length": 894, "header": "sp|Q2TBE0-1|C19L2_HUMAN Isoform 1 of CWF19-like protein 2 OS=Homo sapiens OX=9606 GN=CWF19L2 PE=1 SV=4 CANONICAL=Q2TBE0-1" }, "locus": { "chromosome": "11", "start_pos": 107457816, "end_pos": 107326913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000282251.10", "url": "https://www.ensembl.org/id/ENST00000282251.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000282251.5", "url": "https://www.ensembl.org/id/ENSP00000282251.5" } ] } }, { "isoform_ac": "Q2TBE0-2", "url": "", "sequence": { "sequence": "MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKKKKDKHSKKAKKEKKKKSKKQKYEKNNESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPVNTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKFMGKTDGDYYTLDDMFVSKAAERERLGEEEENQRKKAIAEHRSLAAQMEKCLYCFDSSQFPKHLIVAIGVKVYLCLPNVRSLTEGHCLIVPLQHHRAATLLDEDIWEEIQIKSRTVIQ", "length": 742, "header": "sp|Q2TBE0-2|C19L2_HUMAN Isoform 2 of CWF19-like protein 2 OS=Homo sapiens OX=9606 GN=CWF19L2 PE=1 SV=4 CANONICAL=Q2TBE0-1" }, "locus": {} }, { "isoform_ac": "Q2TBE0-3", "url": "", "sequence": { "sequence": "MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKKKKDKHSKKAKKEKKKKSKKQKYEKNNESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFMSVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKDGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRMKEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYATTDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGSLCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSPERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPVNTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKQLRENVLVKRKRTKGKKLLLSIGVLLHKWKNVCIVLTALNFPSILLLQ", "length": 672, "header": "sp|Q2TBE0-3|C19L2_HUMAN Isoform 3 of CWF19-like protein 2 OS=Homo sapiens OX=9606 GN=CWF19L2 PE=1 SV=4 CANONICAL=Q2TBE0-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q2TBE0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2TBE0" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 360, "end_pos": 360, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q2TBE0", "url": "https://www.uniprot.org/uniprot/Q2TBE0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q2TBE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q2TBE0" } ], "site_lbl": "Ser360" }, { "start_pos": 372, "end_pos": 372, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q2TBE0", "url": "https://www.uniprot.org/uniprot/Q2TBE0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q2TBE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q2TBE0" } ], "site_lbl": "Ser372" }, { "start_pos": 403, "end_pos": 403, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q2TBE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q2TBE0" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser403" }, { "start_pos": 479, "end_pos": 479, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q2TBE0", "url": "https://www.uniprot.org/uniprot/Q2TBE0" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q2TBE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q2TBE0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser479" }, { "start_pos": 484, "end_pos": 484, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q2TBE0", "url": "https://www.uniprot.org/uniprot/Q2TBE0" }, { "database": "PubMed", "id": "21406692", "url": 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"37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "A compensatory base change in U1 snRNA suppresses a 5' splice site mutation.", "journal": "Cell", "date": "1986", "authors": "Zhuang Y, Weiner AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "3757028", "url": "https://glygen.org/publication/PubMed/3757028" } ] }, { "title": "Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A.", "journal": "Genes & development", "date": "1996", "authors": "Gozani O, Feld R, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8566756", "url": "https://glygen.org/publication/PubMed/8566756" } ] }, { "title": "A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.", "journal": "Genes & development", "date": "1996", "authors": "Ohno M, Shimura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8608946", "url": "https://glygen.org/publication/PubMed/8608946" } ] }, { "title": "Association of U2 snRNP with the spliceosomal complex E.", "journal": "Nucleic acids research", "date": "1997", "authors": "Hong W, Bennett M, Xiao Y, Feld Kramer R, Wang C, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9016565", "url": "https://glygen.org/publication/PubMed/9016565" } ] }, { "title": "U2AF65 recruits a novel human DEAD box protein required for the U2 snRNP-branchpoint interaction.", "journal": "Genes & development", "date": "1997", "authors": "Fleckner J, Zhang M, Valcarcel J, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9242493", "url": "https://glygen.org/publication/PubMed/9242493" } ] }, { "title": "A cooperative interaction between U2AF65 and mBBP/SF1 facilitates branchpoint region recognition.", "journal": "Genes & development", "date": "1998", "authors": "Berglund JA, Abovich N, Rosbash M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9512519", "url": "https://glygen.org/publication/PubMed/9512519" } ] }, { "title": "Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing.", "journal": "The EMBO journal", "date": "1998", "authors": "Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9524131", "url": "https://glygen.org/publication/PubMed/9524131" } ] }, { "title": "The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Laggerbauer B, Achsel T, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9539711", "url": "https://glygen.org/publication/PubMed/9539711" } ] }, { "title": "A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Gozani O, Potashkin J, Reed R", "evidence": [ { "database": "Reactome", "id": 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J, Lamond A, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9731529", "url": "https://glygen.org/publication/PubMed/9731529" } ] } ], "pathway": [ { "id": "hsa:143884", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:143884", "resource": "KEGG Pathway" }, { "id": "R-HSA-72163", "name": "mRNA Splicing - Major Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "resource": "Reactome", "description": "mRNA Splicing - Major Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BG79-1", "protein_name": "CWF19-like protein 2", "gene_name": "Cwf19l2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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