{ "uniprot_canonical_ac": "Q8NG98-1", "uniprot_ac": "Q8NG98", "uniprot_id": "OR7D4_HUMAN", "mass": { "chemical_mass": 34448.0, "monoisotopic_mass": 34448.0 }, "refseq": { "ac": "NP_001005191", "name": "olfactory receptor 7D4", "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_001005191" }, "gene_names": [ { "name": "OR7D4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NG98", "id": "Q8NG98" }, { "name": "OR7D4P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8NG98", "id": "Q8NG98" }, { "name": "OR7D4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191", "id": "NP_001005191" }, { "name": "hg105; OR19-7; OR19-B; OR19B; OR7D4P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191", "id": "NP_001005191" } ], "protein_names": [ { "name": "Olfactory receptor 7D4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NG98" }, { "name": "OR19-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NG98" }, { "name": "Odorant receptor family subfamily D member 4RT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NG98" }, { "name": "Olfactory receptor OR19-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NG98" }, { "name": "olfactory receptor 7D4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191", "id": "NP_001005191" }, { "name": "olfactory receptor, family 7, subfamily D, member 4 pseudogene; olfactory receptor OR19-7; odorant receptor family 7 subfamily D member 4 RT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191", "id": "NP_001005191" } ], "function": [ { "annotation": "Data is consistent with the idea that OR7D4 genotype predicts the sensory perception of meat containing androstenone and that genetic variation in an odorant receptor can alter food preferences.", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" }, { "database": "PubMed", "id": "22567099", "url": "https://glygen.org/publication/PubMed/22567099" } ] }, { "annotation": "Genotypic variation in OR7D4 accounts for a significant proportion of the valence (pleasantness or unpleasantness) and intensity variance in perception of these steroidal odours", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" }, { "database": "PubMed", "id": "17873857", "url": "https://glygen.org/publication/PubMed/17873857" } ] }, { "annotation": "Impact of genotypic variations of the androstadienone (AND)-receptor OR7D4, as well as the influence of participant sex and concomitant hormonal fluctuations on AND-action during emotional interference processing, olfactory performance and mood assessments.", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" }, { "database": "PubMed", "id": "29246659", "url": "https://glygen.org/publication/PubMed/29246659" } ] }, { "annotation": "Odorant receptor. Selectively activated by androstenone and the related odorous steroid androstadienone.", "evidence": [ { "database": "UniProtKB", "id": "Q8NG98", "url": "https://www.uniprot.org/uniprot/Q8NG98#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_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" } ] }, { "annotation": "Results suggest non-neutral evolution for an olfactory receptor gene", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" }, { "database": "PubMed", "id": "26072518", "url": "https://glygen.org/publication/PubMed/26072518" } ] }, { "annotation": "The results suggested that odor perception between heterosexual partners may have an impact on the development of depression and anxiety, and that it might be influenced by genetic variation in OR7D4.", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" }, { "database": "PubMed", "id": "21093532", "url": "https://glygen.org/publication/PubMed/21093532" } ] }, { "annotation": "This study suggested that OR7D4 sequence variant (rs2878329 G>A) showed evidence of association with reduced levels of adiposity (p=0.03), cognitive dietary restraint (p=0.05) and susceptibility to hunger (p=0.008).", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" }, { "database": "PubMed", "id": "22044667", "url": "https://glygen.org/publication/PubMed/22044667" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs761795389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761795389" }, { "id": "rs761795389", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761795389" }, { "id": "rs761795389", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761795389" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "19", "chr_pos": "9214819", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T7", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776788658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776788658" }, { "id": "rs776788658", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776788658" }, { "id": "rs776788658", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776788658" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "19", "chr_pos": "9214818", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T7", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "14.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "16.33", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "14.63", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000174667", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174667" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q8NG98", "url": 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receptor gene family.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2004", "authors": "Malnic B, Godfrey PA, Buck LB", "evidence": [ { "database": "UniProtKB", "id": "Q8NG98", "url": "https://www.uniprot.org/uniprot/Q8NG98" } ], "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": "Characterizing the expression of the human olfactory receptor gene family using a novel DNA microarray.", "journal": "Genome Biol.", "date": "2007", "authors": "Zhang X, De la Cruz O, Pinto JM, Nicolae D, Firestein S, Gilad Y", "evidence": [ { "database": "UniProtKB", "id": "Q8NG98", "url": "https://www.uniprot.org/uniprot/Q8NG98" } ], "reference": [ { "type": "PubMed", "id": "17509148", "url": "https://glygen.org/publication/PubMed/17509148" } ] }, { "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": "UniProtKB", "id": "Q8NG98", "url": "https://www.uniprot.org/uniprot/Q8NG98" }, { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" }, { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" } ], "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": "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, Vanberghem M, Berke AP, Herlihy K, Pick H, Vogel H, Zhang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753" } ], "reference": [ { "type": "PubMed", "id": "19581598", "url": "https://glygen.org/publication/PubMed/19581598" } ] }, { "title": "Odor perception between heterosexual partners: its association with depression, anxiety, and genetic variation in odorant receptor OR7D4.", "journal": "Biological psychology", "date": "2011", "authors": "Sookoian S, Burgueno A, Gianotti TF, Marillet G, Pirola CJ", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" } ], "reference": [ { "type": "PubMed", "id": "21093532", "url": "https://glygen.org/publication/PubMed/21093532" } ] }, { "title": "Association between olfactory receptor genes, eating behavior traits and adiposity: results from the Quebec Family Study.", "journal": "Physiology & behavior", "date": "2012", "authors": "Choquette AC, Bouchard L, Drapeau V, Lemieux S, Tremblay A, Bouchard C, Vohl MC, Perusse L", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" } ], "reference": [ { "type": "PubMed", "id": "22044667", "url": "https://glygen.org/publication/PubMed/22044667" } ] }, { "title": "Genetic variation of an odorant receptor OR7D4 and sensory perception of cooked meat containing androstenone.", "journal": "PloS one", "date": "2012", "authors": "Lunde K, Egelandsdal B, Skuterud E, Mainland JD, Lea T, Hersleth M, Matsunami H", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" } ], "reference": [ { "type": "PubMed", "id": "22567099", "url": "https://glygen.org/publication/PubMed/22567099" } ] }, { "title": "The missense of smell: functional variability in the human odorant receptor repertoire.", "journal": "Nature neuroscience", "date": "2014", "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": "Global Survey of Variation in a Human Olfactory Receptor Gene Reveals Signatures of Non-Neutral Evolution.", "journal": "Chemical senses", "date": "2015", "authors": "Hoover KC, Gokcumen O, Qureshy Z, Bruguera E, Savangsuksa A, Cobb M, Matsunami H", "evidence": [ { "database": "RefSeq", "id": "NP_001005191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005191" } ], "reference": [ { "type": "PubMed", "id": "26072518", "url": "https://glygen.org/publication/PubMed/26072518" } ] }, { "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 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