{ "uniprot_canonical_ac": "O76002-1", "uniprot_ac": "O76002", "uniprot_id": "OR2J2_HUMAN", "mass": { "chemical_mass": 35204.0, "monoisotopic_mass": 35204.0 }, "refseq": { "ac": "NP_112167", "name": "olfactory receptor 2J2", "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_112167" }, "gene_names": [ { "name": "OR2J2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76002", "id": "O76002" }, { "name": "OR2J2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112167", "id": "NP_112167" }, { "name": "dJ80I19.4; hs6M1-6; OR6-19; OR6-8; OR6.3.8; ORL684", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112167", "id": "NP_112167" } ], "protein_names": [ { "name": "Olfactory receptor 2J2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76002" }, { "name": "Hs6M1-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76002" }, { "name": "OR6-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76002" }, { "name": "Olfactory receptor 6-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76002" }, { "name": "Olfactory receptor OR6-19", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76002" }, { "name": "olfactory receptor 2J2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112167", "id": "NP_112167" }, { "name": "olfactory receptor OR6-19; olfactory receptor 6-8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112167", "id": "NP_112167" } ], "function": [ { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_112167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112167" }, { "database": "PubMed", "id": "19851445", "url": "https://glygen.org/publication/PubMed/19851445" } ] }, { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "O76002", "url": "https://www.uniprot.org/uniprot/O76002#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. 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"end_pos": 6, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->KAS).", "chr_id": "6", "chr_pos": "29173653", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N6", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755601407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755601407" }, { "id": "rs755601407", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755601407" }, { "id": "rs755601407", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755601407#frequency_tab" }, { "id": "rs755601407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755601407" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 6, "end_pos": 6, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss 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"journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1999", "authors": "Wetzel CH, Oles M, Wellerdieck C, Kuczkowiak M, Gisselmann G, Hatt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "10460249", "url": "https://glygen.org/publication/PubMed/10460249" } ] }, { "title": "The human olfactory receptor gene family.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Malnic B, Godfrey PA, Buck LB", "evidence": [ { "database": "UniProtKB", "id": "O76002", "url": "https://www.uniprot.org/uniprot/O76002" } ], "reference": [ { "type": "PubMed", "id": "14983052", "url": "https://glygen.org/publication/PubMed/14983052" } ] }, { "title": "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": 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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, Vanberghem M, Berke AP, Herlihy K, Pick H, Vogel H, Zhang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": 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"authors": "Mainland JD, Keller A, Li YR, Zhou T, Trimmer C, Snyder LL, Moberly AH, Adipietro KA, Liu WL, Zhuang H, Zhan S, Lee SS, Lin A, Matsunami H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "24316890", "url": "https://glygen.org/publication/PubMed/24316890" } ] }, { "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": "Identification of agonists for a group of human odorant receptors.", "journal": "Frontiers in pharmacology", "date": "2015", "authors": "Gonzalez-Kristeller DC, do Nascimento JB, Galante PA, Malnic B", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "25784876", "url": "https://glygen.org/publication/PubMed/25784876" } ] }, { "title": "Human olfactory receptor responses to odorants.", "journal": "Scientific data", "date": "2015", "authors": "Mainland JD, Li YR, Zhou T, Liu WL, Matsunami H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "25977809", "url": "https://glygen.org/publication/PubMed/25977809" } ] }, { "title": "Altered G Protein Coupling in Olfactory Neuroepithelial Cells From Patients With Schizophrenia.", "journal": "Schizophrenia bulletin", "date": "2016", "authors": "Borgmann-Winter KE, Wang HY, Ray R, Willis BR, Moberg PJ, Rawson NE, Gur RE, Turetsky BI, Hahn CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "26373539", "url": "https://glygen.org/publication/PubMed/26373539" } ] }, { "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", "evidence": [ { "database": "Reactome", "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946" } ], "reference": [ { "type": "PubMed", "id": "27515280", "url": "https://glygen.org/publication/PubMed/27515280" } ] }, { "title": "The Broadly Tuned Odorant Receptor OR1A1 is Highly Selective for 3-Methyl-2,4-nonanedione, a Key Food Odorant in Aged Wines, Tea, and Other Foods.", "journal": "Chemical senses", "date": "2017", "authors": "Geithe C, Noe F, Kreissl J, 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