{ "uniprot_canonical_ac": "P53677-1", "uniprot_ac": "P53677", "uniprot_id": "AP3M2_HUMAN", "mass": { "chemical_mass": 46977.0, "monoisotopic_mass": 46977.0 }, "refseq": { "ac": "NP_001127768", "name": "AP-3 complex subunit mu-2", "summary": "This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768" }, "gene_names": [ { "name": "AP3M2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P53677", "id": "P53677" }, { "name": "AP3M2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768", "id": "NP_001127768" }, { "name": "AP47B; CLA20; P47B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768", "id": "NP_001127768" } ], "protein_names": [ { "name": "AP-3 complex subunit mu-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P53677" }, { "name": "AP-3 complex subunit mu-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768", "id": "NP_001127768" }, { "name": "Adaptor-related protein complex 3 subunit mu-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "Clathrin assembly protein assembly protein complex 3 mu-2 medium chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "Clathrin coat assembly protein AP47 homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "Clathrin coat-associated protein AP47 homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "Golgi adaptor AP-1 47 kDa protein homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "HA1 47 kDa subunit homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "Mu3B-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "P47B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53677" }, { "name": "clathrin-associated protein AP47 homolog 2; clathrin coat assembly protein AP47 homolog 2; golgi adaptor AP-1 47 kDA protein homolog 2; HA1 47kDA subunit homolog 2; clathrin assembly protein assembly protein complex 1 medium chain homolog 2; mu3B-adaptin; HA1 47 kDa subunit homolog 2; adapter-related protein complex 3 mu-2 subunit; clathrin coat-associated protein AP47 homolog 2; adapter-related protein complex 3 subunit mu-2; clathrin assembly protein assembly protein complex 3 mu-2 medium chain; adaptor related protein complex 3 mu 2 subunit; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768", "id": "NP_001127768" } ], "function": [ { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768" }, { "database": "PubMed", "id": "19481122", "url": "https://glygen.org/publication/PubMed/19481122" } ] }, { "annotation": "Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.", "evidence": [ { "database": "UniProtKB", "id": "P53677", "url": "https://www.uniprot.org/uniprot/P53677#function" } ] }, { "annotation": "Some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission GeneRIF: Observational study of genotype prevalence. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768" }, { "database": "PubMed", "id": "17293072", "url": "https://glygen.org/publication/PubMed/17293072" } ] }, { "annotation": "This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P53677", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P53677" } ], "glycoeffect": [], "start_pos": 141, "end_pos": 141, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "42158089", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R141", "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": "" } ] }, { "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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P53677", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P53677" } ], "glycoeffect": [], "start_pos": 246, "end_pos": 246, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "42165493", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R246", "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": 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P53677", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P53677" } ], "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", 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"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": "up", "name": "Urinary bladder 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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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P53677", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P53677" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P53677" } ], "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": [ { 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"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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P53677", "url": "https://www.uniprot.org/uniprot/P53677" } ], "common_name": "Human" } ], "gene": [ { "name": "AP3M2", "url": "https://www.uniprot.org/uniprot/P53677", "locus": { "chromosome": "8", "start_pos": 42171673, "end_pos": 42152946, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000070718", "url": "https://www.ensembl.org/id/ENSG00000070718" } ] } } ], "crossref": [ { "id": "ENSG00000070718", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000070718", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P53677", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P53677", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd09261", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09261", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14837", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14837", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "AP3M2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "10947", "url": "https://www.ncbi.nlm.nih.gov/gene/10947", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "570", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=570", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P53677", "url": "https://www.ebi.ac.uk/intact/interactors/id:P53677*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001392", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001392", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011012", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011012", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018240", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018240", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022775", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022775", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036168", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036168", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10947", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10947", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "610469", "url": "http://www.omim.org/entry/610469", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P53677", "url": "https://www.nextprot.org/entry/NX_P53677", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "TEPNTID", "url": "https://omabrowser.org/oma/group/TEPNTID/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "831588at2759", "url": "http://www.orthodb.org/?query=831588at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10529", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10529", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10529:SF341", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10529:SF341", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00928", "url": "http://pfam.xfam.org/family/PF00928", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01217", "url": "http://pfam.xfam.org/family/PF01217", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P53677", "url": "https://pharos.nih.gov/targets/P53677", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P53677", "url": "http://purl.obolibrary.org/obo/PR_P53677", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1D5RMS9", "url": "https://www.uniprot.org/uniprot/A0A1D5RMS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1D5RMS9-1", "url": "https://www.uniprot.org/uniprot/A0A1D5RMS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGF3", "url": "https://www.uniprot.org/uniprot/E5RGF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGF3-1", "url": "https://www.uniprot.org/uniprot/E5RGF3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RI83", "url": "https://www.uniprot.org/uniprot/E5RI83", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RI83-1", "url": "https://www.uniprot.org/uniprot/E5RI83-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJ52", "url": "https://www.uniprot.org/uniprot/E5RJ52", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJ52-1", "url": "https://www.uniprot.org/uniprot/E5RJ52-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ER80", "url": "https://www.uniprot.org/uniprot/E7ER80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ER80-1", "url": "https://www.uniprot.org/uniprot/E7ER80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAY4", "url": "https://www.uniprot.org/uniprot/H0YAY4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAY4-1", "url": "https://www.uniprot.org/uniprot/H0YAY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBA0", "url": "https://www.uniprot.org/uniprot/H0YBA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBA0-1", "url": "https://www.uniprot.org/uniprot/H0YBA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBM0", "url": "https://www.uniprot.org/uniprot/H0YBM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBM0-1", "url": "https://www.uniprot.org/uniprot/H0YBM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P53677", "url": "https://www.uniprot.org/uniprot/P53677", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P53677-1", "url": "https://www.uniprot.org/uniprot/P53677-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P53677-2", "url": "https://www.uniprot.org/uniprot/P53677-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYVKHNISFRDSSSLGRFEITVGPKQTMGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMSLQAGASKPDENPTINLQFKIQQLAISGLKVNRLDMYGEKYKPFKGIKYMTKAGKFQVRT", "length": 418, "header": "sp|P53677-1|AP3M2_HUMAN Isoform 1 of AP-3 complex subunit mu-2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "isoforms": [ { "isoform_ac": "A0A1D5RMS9-1", "url": "", "sequence": { "sequence": "MIHSLFLINS", "length": 10, "header": "tr|A0A1D5RMS9-1|A0A1D5RMS9_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit mu 2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=4 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42154717, "end_pos": 42154688, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517969.1", "url": "https://www.ensembl.org/id/ENST00000517969.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430538.1", "url": "https://www.ensembl.org/id/ENSP00000430538.1" } ] } }, { "isoform_ac": "E5RGF3-1", "url": "", "sequence": { "sequence": "MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQYYCSGISVLMQHTGPFAQ", "length": 109, "header": "tr|E5RGF3-1|E5RGF3_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit mu 2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42156032, "end_pos": 42154688, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517865.5", "url": "https://www.ensembl.org/id/ENST00000517865.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430200.1", "url": "https://www.ensembl.org/id/ENSP00000430200.1" } ] } }, { "isoform_ac": "E5RI83-1", "url": "", "sequence": { "sequence": "MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTI", "length": 139, "header": "tr|E5RI83-1|AP3M2_HUMAN Computationally mapped isoform of AP-3 complex subunit mu-2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42158084, "end_pos": 42154688, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522288.5", "url": "https://www.ensembl.org/id/ENST00000522288.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429515.1", "url": "https://www.ensembl.org/id/ENSP00000429515.1" } ] } }, { "isoform_ac": "E5RJ52-1", "url": "", "sequence": { "sequence": "MLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYVKHNISFRDSSSLGRFEITVGPKQTMGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMSLQAGASKPDENPTINLQFKIQQLAISGLKVNRLDMYGEKYKPF", "length": 287, "header": "tr|E5RJ52-1|E5RJ52_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit mu 2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42169010, "end_pos": 42158013, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521280.5", "url": "https://www.ensembl.org/id/ENST00000521280.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430616.1", "url": "https://www.ensembl.org/id/ENSP00000430616.1" } ] } }, { "isoform_ac": "E7ER80-1", "url": "", "sequence": { "sequence": "MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQK", "length": 268, "header": "tr|E7ER80-1|E7ER80_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit mu 2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42165561, "end_pos": 42154688, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517922.5", "url": "https://www.ensembl.org/id/ENST00000517922.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429435.1", "url": "https://www.ensembl.org/id/ENSP00000429435.1" } ] } }, { "isoform_ac": "H0YAY4-1", "url": "", "sequence": { "sequence": "XTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMSLQAGASKPDENPTINLQFKIQQLAISEDFHVCSYFYFGTTGPFQDSR", "length": 97, "header": "tr|H0YAY4-1|H0YAY4_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit mu 2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42168970, "end_pos": 42167289, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522606.5", "url": "https://www.ensembl.org/id/ENST00000522606.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428279.1", "url": "https://www.ensembl.org/id/ENSP00000428279.1" } ] } }, { "isoform_ac": "H0YBA0-1", "url": "", "sequence": { "sequence": "DYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQK", "length": 131, "header": "tr|H0YBA0-1|H0YBA0_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit mu 2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42165561, "end_pos": 42157941, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517499.5", "url": "https://www.ensembl.org/id/ENST00000517499.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429037.1", "url": "https://www.ensembl.org/id/ENSP00000429037.1" } ] } }, { "isoform_ac": "H0YBM0-1", "url": "", "sequence": { "sequence": "PTINLQFKIQQLAISGLKVNRLDMYGEKYKPFKGIKYMTKAGKFQVRT", "length": 48, "header": "tr|H0YBM0-1|AP3M2_HUMAN Computationally mapped isoform of AP-3 complex subunit mu-2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42169058, "end_pos": 42167765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520689.1", "url": "https://www.ensembl.org/id/ENST00000520689.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429804.1", "url": "https://www.ensembl.org/id/ENSP00000429804.1" } ] } }, { "isoform_ac": "P53677-1", "url": "", "sequence": { "sequence": "MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYVKHNISFRDSSSLGRFEITVGPKQTMGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMSLQAGASKPDENPTINLQFKIQQLAISGLKVNRLDMYGEKYKPFKGIKYMTKAGKFQVRT", "length": 418, "header": "sp|P53677-1|AP3M2_HUMAN Isoform 1 of AP-3 complex subunit mu-2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42169058, "end_pos": 42154688, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396926.8", "url": "https://www.ensembl.org/id/ENST00000396926.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380132.3", "url": "https://www.ensembl.org/id/ENSP00000380132.3" } ] } }, { "isoform_ac": "P53677-2", "url": "", "sequence": { "sequence": "MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQKCCLGM", "length": 273, "header": "sp|P53677-2|AP3M2_HUMAN Isoform 2 of AP-3 complex subunit mu-2 OS=Homo sapiens OX=9606 GN=AP3M2 PE=1 SV=1 CANONICAL=P53677-1" }, "locus": { "chromosome": "8", "start_pos": 42167681, "end_pos": 42154688, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530375.5", "url": "https://www.ensembl.org/id/ENST00000530375.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431918.1", "url": "https://www.ensembl.org/id/ENSP00000431918.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Mutation screening of AP3M2 in Japanese epilepsy patients.", "journal": "Brain & development", "date": "2007", "authors": "Huang MC, Okada M, Nakatsu F, Oguni H, Ito M, Morita K, Nagafuji H, Hirose S, Sakaki Y, Kaneko S, Ohno H, Kojima T", "evidence": [ { "database": "RefSeq", "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768" } ], "reference": [ { "type": "PubMed", "id": "17293072", "url": "https://glygen.org/publication/PubMed/17293072" } ] }, { "title": "Association analysis between schizophrenia and the AP-3 complex genes.", "journal": "Neuroscience research", "date": "2009", "authors": "Hashimoto R, Ohi K, Okada T, Yasuda Y, Yamamori H, Hori H, Hikita T, Taya S, Saitoh O, Kosuga A, Tatsumi M, Kamijima K, Kaibuchi K, Takeda M, Kunugi H", "evidence": [ { "database": "RefSeq", "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768" } ], "reference": [ { "type": "PubMed", "id": "19481122", "url": "https://glygen.org/publication/PubMed/19481122" } ] }, { "title": "Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification.", "journal": "Genomics", "date": "1995", "authors": "Koyama K, Sudo K, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "P53677", "url": "https://www.uniprot.org/uniprot/P53677" } ], "reference": [ { "type": "PubMed", "id": "7601449", "url": "https://glygen.org/publication/PubMed/7601449" } ] } ], "pathway": [ { "id": "hsa:10947", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10947", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P53678-1", "protein_name": "AP-3 complex subunit mu-2", "gene_name": "Ap3m2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MIHSLFLINSAGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVVEEIDAIIDKSGSTVTAEIQGVIDACVKLTGMPDLTLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYVKHSISFRDSGSLGRFEITVGPKQTMGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMGLQVGASKPDENPTINLQFKIQQLAISGLKVNRLDMYGEKYKPFKGIKYMTKAGKFQVRT", "length": 418 }, "evidence": [ { "id": "45231616", "url": "http://www.informatics.jax.org/homology/45231616", "database": "MGI" }, { "id": "P53677", "url": "https://omabrowser.org/oma/group/P53677/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8R2R9-1", "protein_name": "AP-3 complex subunit mu-2", "gene_name": "Ap3m2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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