{ "uniprot_canonical_ac": "A0A1B0GVM2-1", "uniprot_ac": "A0A1B0GVM2", "uniprot_id": "A0A1B0GVM2_HUMAN", "mass": { "chemical_mass": 78905.0, "monoisotopic_mass": 78905.0 }, "refseq": {}, "gene_names": [ { "name": "TCAF2C", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2", "id": "A0A1B0GVM2" } ], "protein_names": [ { "name": "TRPM8 channel-associated factor 2C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2#names_and_taxonomy", "id": "A0A1B0GVM2" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "A0A1B0GVM2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A1B0GVM2" } ], "glycoeffect": [], "start_pos": 554, "end_pos": 554, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", 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"DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal 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"description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:8618", "recommended_name": { "id": "DOID:8618", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity." }, "synonyms": [ { "id": "DOID:8618", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8618", "name": "malignant neoplasm of floor of mouth", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "common_name": "Human" } ], "gene": [ { "name": "TCAF2C", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2", "locus": { "chromosome": "7", "start_pos": 143647646, "end_pos": 143639230, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000283528", "url": "https://www.ensembl.org/id/ENSG00000283528" } ] } } ], "crossref": [ { "id": "ENSG00000283528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000283528", "database": "Bgee" }, { "id": "A0A1B0GVM2", "url": 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{ "id": "A0A1B0GVM2-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2-1", "database": "UniProtKB" } ], "sequence": { "sequence": "XYGEDVRQDQQQLLEGISELDIRTGGVPSQLLVHGALAFPLGLDASLNCFLAAAHYGRGRVVLAAHECLLCAPKMGPFLLNAVRWLARGQTGKVGVNTNLKDLCPLLSEHGLQCSLEPHLNSDLCVYCCKAYSDKEAKQLQEFVAEGGGLLIGGQAWWWASQNPGHCPLAGFPGNIILNCFGLSILPQTLKAGCFPVPTPEMRSYHFRKALSQFQAILNHENGNLEKSCLAKLRVDGAAFLQIPAEGVPAYISLHRLLRKMLRGSGLPAVSRENPVASDSYEAAVLSLATGLAHSGTDCSQLAQGLGTWTCSSSLYPSKHPITVEINGINPGNNDCWVSTGLYLLEGQNAEVSLSEAAASAGLRVQIGCHTDDLTKARKLSRAPVVTHQCWMDRTERSVSCLWGGLLYVIVPKGSQLGPVPVTIRGAVPAPYYKLGKTSLEEWKRQMQENLAPWGELATDNIILTVPTTNLQALKDPEPVLRLWDEMMQAVARLAAEPFPFRRPERIVADVQISAGWMHSGYPIMCHLESVKEIINEMDMRSRGVWGPIHELGHNQQWHGWEFPPHTTEATCNLWSVYVHETVLGIPRAQAHEALSPPERERRIKAHLGKGAPLCDWNVWTALETYLQLQQAFGWEPFTQLFAEYQTLSHLPKDNTGRMNLWVKKFSEKVKKNLVPFFEAWGWPIQKEVADSLASLPEWQENPMQVYLRARK", "length": 712, "header": "tr|A0A1B0GVM2-1|A0A1B0GVM2_HUMAN Isoform 1 of TRPM8 channel-associated factor 2C OS=Homo sapiens OX=9606 GN=TCAF2C PE=4 SV=1 CANONICAL=A0A1B0GVM2-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GVM2-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2#A0A1B0GVM2-1", "sequence": { "sequence": "XYGEDVRQDQQQLLEGISELDIRTGGVPSQLLVHGALAFPLGLDASLNCFLAAAHYGRGRVVLAAHECLLCAPKMGPFLLNAVRWLARGQTGKVGVNTNLKDLCPLLSEHGLQCSLEPHLNSDLCVYCCKAYSDKEAKQLQEFVAEGGGLLIGGQAWWWASQNPGHCPLAGFPGNIILNCFGLSILPQTLKAGCFPVPTPEMRSYHFRKALSQFQAILNHENGNLEKSCLAKLRVDGAAFLQIPAEGVPAYISLHRLLRKMLRGSGLPAVSRENPVASDSYEAAVLSLATGLAHSGTDCSQLAQGLGTWTCSSSLYPSKHPITVEINGINPGNNDCWVSTGLYLLEGQNAEVSLSEAAASAGLRVQIGCHTDDLTKARKLSRAPVVTHQCWMDRTERSVSCLWGGLLYVIVPKGSQLGPVPVTIRGAVPAPYYKLGKTSLEEWKRQMQENLAPWGELATDNIILTVPTTNLQALKDPEPVLRLWDEMMQAVARLAAEPFPFRRPERIVADVQISAGWMHSGYPIMCHLESVKEIINEMDMRSRGVWGPIHELGHNQQWHGWEFPPHTTEATCNLWSVYVHETVLGIPRAQAHEALSPPERERRIKAHLGKGAPLCDWNVWTALETYLQLQQAFGWEPFTQLFAEYQTLSHLPKDNTGRMNLWVKKFSEKVKKNLVPFFEAWGWPIQKEVADSLASLPEWQENPMQVYLRARK", "length": 712, "header": "tr|A0A1B0GVM2-1|A0A1B0GVM2_HUMAN Isoform 1 of TRPM8 channel-associated factor 2C OS=Homo sapiens OX=9606 GN=TCAF2C PE=4 SV=1 CANONICAL=A0A1B0GVM2-1" }, "locus": { "chromosome": "7", "start_pos": 143647646, "end_pos": 143639671, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636941.1", "url": "https://www.ensembl.org/id/ENST00000636941.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490573.1", "url": "https://www.ensembl.org/id/ENSP00000490573.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" }, { "name": "negative regulation of anion channel activity", "id": "GO:0010360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010360", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" }, { "name": "regulation of anion channel activity", "id": "GO:0010359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010359", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [] }