{ "uniprot_canonical_ac": "Q8NGD1-1", "uniprot_ac": "Q8NGD1", "uniprot_id": "OR4N2_HUMAN", "mass": { "chemical_mass": 34721.0, "monoisotopic_mass": 34721.0 }, "refseq": { "ac": "NP_001004723", "name": "olfactory receptor 4N2", "summary": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004723" }, "gene_names": [ { "name": "OR4N2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NGD1", "id": "Q8NGD1" }, { "name": "OR14-13; OR14-8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004723", "id": "NP_001004723" }, { "name": "OR4N2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004723", "id": "NP_001004723" } ], "protein_names": [ { "name": "Olfactory receptor 4N2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NGD1" }, { "name": "Olfactory receptor OR14-13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NGD1" }, { "name": "Olfactory receptor OR14-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NGD1" }, { "name": "olfactory receptor 4N2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004723", "id": "NP_001004723" }, { "name": "olfactory receptor OR14-13; olfactory receptor OR14-8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004723", "id": "NP_001004723" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "Q8NGD1", "url": "https://www.uniprot.org/uniprot/Q8NGD1#function" } ] }, { "annotation": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001004723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004723" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q8NGD1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NGD1" } ], "glycoeffect": [], "start_pos": 133, "end_pos": 133, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "19827845", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P133", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": 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"" }, { "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": 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"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": 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olfactory receptor gene family.", "journal": "Proc. 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U.S.A.", "date": "2004", "authors": "Malnic B, Godfrey PA, Buck LB", "evidence": [ { "database": "UniProtKB", "id": "Q8NGD1", "url": "https://www.uniprot.org/uniprot/Q8NGD1" } ], "reference": [ { "type": "PubMed", "id": "14983052", "url": "https://glygen.org/publication/PubMed/14983052" } ] }, { "title": "Profiling of olfactory receptor gene expression in whole human olfactory mucosa.", "journal": "PloS one", "date": "2014", "authors": "Verbeurgt C, Wilkin F, Tarabichi M, Gregoire F, Dumont JE, Chatelain P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946" } ], "reference": [ { "type": "PubMed", "id": "24800820", "url": "https://glygen.org/publication/PubMed/24800820" } ] }, { "title": "The human olfactory transcriptome.", "journal": "BMC genomics", "date": "2016", "authors": "Olender T, Keydar I, Pinto JM, Tatarskyy P, Alkelai A, Chien MS, Fishilevich S, Restrepo D, Matsunami H, Gilad Y, Lancet D", 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