{ "uniprot_canonical_ac": "Q9NQN1-1", "uniprot_ac": "Q9NQN1", "uniprot_id": "OR2S1_HUMAN", "mass": { "chemical_mass": 35172.0, "monoisotopic_mass": 35172.0 }, "refseq": { "ac": "NP_063950", "name": "olfactory receptor 2S2", "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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950" }, "gene_names": [ { "name": "OR2S2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NQN1", "id": "Q9NQN1" }, { "name": "OR2S2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950", "id": "NP_063950" }, { "name": "OR37A; OST715", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950", "id": "NP_063950" } ], "protein_names": [ { "name": "Olfactory receptor 2S2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NQN1" }, { "name": "Olfactory receptor OR9-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NQN1" }, { "name": "olfactory receptor 2S2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950", "id": "NP_063950" }, { "name": "olfactory receptor OR9-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950", "id": "NP_063950" } ], "function": [ { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_063950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950" }, { "database": "PubMed", "id": "20677014", "url": "https://glygen.org/publication/PubMed/20677014" } ] }, { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "Q9NQN1", "url": "https://www.uniprot.org/uniprot/Q9NQN1#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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_063950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063950" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1564076317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564076317" }, { "id": "rs1564076317", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1564076317" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 136, "end_pos": 136, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IMS->NMS).", "chr_id": "9", "chr_pos": "35957692", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NQN1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NQN1" } ], "glycoeffect": [], "start_pos": 143, "end_pos": 143, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "35957672", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M143", "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": "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": 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SV=2 CANONICAL=Q9NQN1-1" }, "locus": { "chromosome": "9", "start_pos": 35958098, "end_pos": 35957142, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341959.2", "url": "https://www.ensembl.org/id/ENST00000341959.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000344040.2", "url": "https://www.ensembl.org/id/ENSP00000344040.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 5, "start_aa": "Asn", "end_pos": 5, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5", "evidence": [ { "id": "Q9NQN1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQN1#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Specificity and sensitivity of a human olfactory receptor functionally expressed in human embryonic kidney 293 cells and Xenopus Laevis oocytes.", "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": "Q9NQN1", "url": "https://www.uniprot.org/uniprot/Q9NQN1" } ], "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": "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": "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": 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