{ "uniprot_canonical_ac": "A4D2G3-1", "uniprot_ac": "A4D2G3", "uniprot_id": "O2A25_HUMAN", "mass": { "chemical_mass": 34606.0, "monoisotopic_mass": 34606.0 }, "refseq": { "ac": "NP_001004488", "name": "olfactory receptor 2A25", "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 7-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, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488" }, "gene_names": [ { "name": "OR2A25", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3" }, { "name": "OR2A24P; OR2A25P; OR2A27", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488", "id": "NP_001004488" }, { "name": "OR2A25P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3" }, { "name": "OR2A25", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488", "id": "NP_001004488" }, { "name": "OR2A27", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3" } ], "protein_names": [ { "name": "Olfactory receptor 2A25", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A4D2G3" }, { "name": "Olfactory receptor 2A27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A4D2G3" }, { "name": "olfactory receptor 2A25", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488", "id": "NP_001004488" }, { "name": "olfactory receptor, family 2, subfamily A, member 25 pseudogene; olfactory receptor, family 2, subfamily A, member 27; olfactory receptor, family 2, subfamily A, member 24 pseudogene; olfactory receptor 2A27", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488", "id": "NP_001004488" } ], "function": [ { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001004488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488" }, { "database": "PubMed", "id": "19023099", "url": "https://glygen.org/publication/PubMed/19023099" }, { "database": "PubMed", "id": "17975119", "url": "https://glygen.org/publication/PubMed/17975119" } ] }, { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "A4D2G3", "url": "https://www.uniprot.org/uniprot/A4D2G3#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 7-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, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001004488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A4D2G3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2G3" } ], "glycoeffect": [], "start_pos": 189, "end_pos": 189, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "144074785", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A189", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the 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CANONICAL=A4D2G3-1" }, "locus": { "chromosome": "7", "start_pos": 144075149, "end_pos": 144074220, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000641663.1", "url": "https://www.ensembl.org/id/ENST00000641663.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493343.1", "url": "https://www.ensembl.org/id/ENSP00000493343.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 4, "start_aa": "Asn", "end_pos": 4, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4", "evidence": [ { "id": "A4D2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A4D2G3#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": 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"Identification of specific ligands for orphan olfactory receptors. G protein-dependent agonism and antagonism of odorants.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Shirokova E, Schmiedeberg K, Bedner P, Niessen H, Willecke K, Raguse JD, Meyerhof W, Krautwurst D", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "15598656", "url": "https://glygen.org/publication/PubMed/15598656" } ] }, { "title": "Structural determinants of odorant recognition by the human olfactory receptors OR1A1 and OR1A2.", "journal": "Journal of structural biology", "date": "2007", "authors": "Schmiedeberg K, Shirokova E, Weber HP, Schilling B, Meyerhof W, Krautwurst D", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "17601748", "url": "https://glygen.org/publication/PubMed/17601748" } ] }, { "title": "Genetic variation in a human odorant receptor alters odour perception.", "journal": "Nature", "date": "2007", "authors": "Keller A, Zhuang H, Chi Q, Vosshall LB, Matsunami H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "17873857", "url": "https://glygen.org/publication/PubMed/17873857" } ] }, { "title": "Genetic elucidation of human hyperosmia to isovaleric acid.", "journal": "PLoS biology", "date": "2007", "authors": "Menashe I, Abaffy T, Hasin Y, Goshen S, Yahalom V, Luetje CW, Lancet D", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "17973576", "url": "https://glygen.org/publication/PubMed/17973576" } ] }, { "title": "Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2008", "authors": "Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR, Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane JP, Ellis SG, Tracy RP, Devlin JJ, Psaty BM", "evidence": [ { "database": "RefSeq", "id": "NP_001004488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488" } ], "reference": [ { "type": "PubMed", "id": "17975119", "url": "https://glygen.org/publication/PubMed/17975119" } ] }, { "title": "Gene variants associated with ischemic stroke: the cardiovascular health study.", "journal": "Stroke", "date": "2009", "authors": "Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR, Longstreth WT Jr, Lumley T, Rice K, Tracy RP, Devlin JJ, Psaty BM", "evidence": [ { "database": "RefSeq", "id": "NP_001004488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488" } ], "reference": [ { "type": "PubMed", "id": "19023099", "url": "https://glygen.org/publication/PubMed/19023099" } ] }, { "title": "TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2009", "authors": "Stohr H, Heisig JB, Benz PM, Schoberl S, Milenkovic VM, Strauss O, Aartsen WM, Wijnholds J, Weber BH, Schulz HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "19474308", "url": "https://glygen.org/publication/PubMed/19474308" } ] }, { "title": "Large-scale production and study of a synthetic G protein-coupled receptor: human olfactory receptor 17-4.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Cook BL, Steuerwald D, Kaiser L, Graveland-Bikker J, 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