{ "uniprot_canonical_ac": "O76001-1", "uniprot_ac": "O76001", "uniprot_id": "OR2J3_HUMAN", "mass": { "chemical_mass": 34950.0, "monoisotopic_mass": 34950.0 }, "refseq": { "ac": "NP_001005216", "name": "olfactory receptor 2J3", "summary": "This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216" }, "gene_names": [ { "name": "OR2J3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76001", "id": "O76001" }, { "name": "6M1-3; C3HEXS; HS6M1-3; OR6-16; OR6-6; OR6.3.6; ORL671", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216", "id": "NP_001005216" }, { "name": "OR2J3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216", "id": "NP_001005216" } ], "protein_names": [ { "name": "Olfactory receptor 2J3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76001" }, { "name": "Hs6M1-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76001" }, { "name": "OR6-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76001" }, { "name": "Olfactory receptor 6-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76001" }, { "name": "Olfactory receptor OR6-16", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76001" }, { "name": "olfactory receptor 2J3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216", "id": "NP_001005216" }, { "name": "olfactory receptor OR6-16; olfactory receptor 6-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216", "id": "NP_001005216" } ], "function": [ { "annotation": "OR2J3 activation induces apoptosis and inhibits cell proliferation and migration in long-term stimulus experiments with helional.", "evidence": [ { "database": "RefSeq", "id": "NP_001005216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216" }, { "database": "PubMed", "id": "27939274", "url": "https://glygen.org/publication/PubMed/27939274" } ] }, { "annotation": "Odorant receptor involved in the detection of the flavor compound cis-3-hexen-1-ol (C3HEX), a compound typically described as 'green grassy' or the smell of 'cut grass'.", "evidence": [ { "database": "UniProtKB", "id": "O76001", "url": "https://www.uniprot.org/uniprot/O76001#function" }, { "database": "PubMed", "id": "22714804", "url": "https://glygen.org/publication/PubMed/22714804" } ] }, { "annotation": "This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001005216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216" } ] }, { "annotation": "Two amino acid substitutions, T113A and R226Q, impaired the ability of OR2J3 to respond to cis-3-hexen-1-ol, and together these two substitutions effectively abolished the response to the compound.", "evidence": [ { "database": "RefSeq", "id": "NP_001005216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005216" }, { "database": "PubMed", "id": "22714804", "url": "https://glygen.org/publication/PubMed/22714804" } ] } ], "disease": [ { "disease_id": "MONDO:0044281", "recommended_name": { "id": "MONDO:0044281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044281", "name": "obsolete c3hex, ability to smell", "description": "OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." }, "synonyms": [ { "id": "MONDO:0044281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044281", "name": "C3HEX, ability to smell", "description": "" } ], "evidence": [ { "id": "615082", "database": "MIM", "url": "https://www.omim.org/entry/615082" } ] } ], "snv": [ { "evidence": [ { "id": "rs1238207949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238207949" }, { "id": "rs1238207949", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238207949" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAI).", "chr_id": "6", "chr_pos": "29111919", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1238207949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238207949" }, { "id": "rs1238207949", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238207949" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAN).", "chr_id": "6", "chr_pos": "29111919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867846751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867846751" }, { "id": "rs867846751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867846751" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 8, "end_pos": 8, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "6", "chr_pos": "29111913", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N8", "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": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "23.39", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "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": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "22.52", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "27.26", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "17.55", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000204701", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204701" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76001", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76001" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "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": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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": "O76001", "url": "https://www.uniprot.org/uniprot/O76001" } ], "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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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, Krautwurst D", "evidence": [ { "database": 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