{ "uniprot_canonical_ac": "A4D2G3-1", "sequence": { "header": "sp|A4D2G3-1|O2A25_HUMAN Isoform 1 of Olfactory receptor 2A25 OS=Homo sapiens OX=9606 GN=OR2A25 PE=2 SV=2 CANONICAL=A4D2G3-1", "length": 310, "sequence": "MGGNQTSITEFLLLGFPIGPRIQMLLFGLFSLFYIFILLGNGTILGLISLDSRLHTPMYFFLSHLAVVDIACACSTVPQMLVNLLHPAKPISFAGCMTQMFLFLSFAHTECLLLVVMSYDRYVAICHPLRYSTIMTWKVCITLALTSWILGVLLALVHLVLLLPLSFCGPQKLNHFFCEIMAVLKLACADTHINEVMVLAGAVSVLVGAFFSTVISYVHILCAILKIQSGEGCQKAFSICSSHLCVVGLFYGTAIIMYVEPQYESPKEQKKYLLLFHSLFNPMLNPLIYSLRNKEVQGTLKRMLEKKRTS" }, "uniprot_id": "O2A25_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17975119", "type": "PUBMED", "id": "17975119" } ], "title": "Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488.1", "id": "NP_001004488.1", "database": "RefSeq" } ], "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", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19023099", "type": "PUBMED", "id": "19023099" } ], "title": "Gene variants associated with ischemic stroke: the cardiovascular health study.", "journal": "Stroke", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488.1", "id": "NP_001004488.1", "database": "RefSeq" } ], "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", "date": "2009" } ], "uniprot_ac": "A4D2G3", "site_annotation": [ { "end_pos": 43, "annotation": "n_glycosylation_sequon", "start_pos": 41 }, { "end_pos": 6, "annotation": "n_glycosylation_sequon", "start_pos": 4 } ], "mutation": [ { "sequence_org": "S", "start_pos": 105, "subjects_positive": "4", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "" } }, { "synonyms": [ { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant tumour of kidney", "description": "" }, { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "renal cancer", "description": "" } ], "recommended_name": { "id": "263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "kidney cancer", "description": "" } }, { "synonyms": [ { "id": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - 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(1.1%)." }, { "sequence_org": "T", "disease": [ { "synonyms": [ { "id": "0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related", "description": "" }, { "id": "0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7", "description": "" }, { "id": "0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "MDDGA7", "description": "" } ], "recommended_name": { "id": "0111234", "url": "http://disease-ontology.org/term/DOID:0111234", "resource": "Disease Ontology", "name": "congenital muscular dystrophy-dystroglycanopathy A7", "description": "" } } ], "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374536437", "id": "rs374536437", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs374536437", "id": "rs374536437", "database": "gnomAD" } ], "sequence_mut": "I", "start_pos": 6, "keywords": [ "ebi", "disease" ], "end_pos": 6, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQI)." }, { "sequence_org": "A", "start_pos": 209, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2G3", "id": "A4D2G3", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 209, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "D", "start_pos": 69, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D2G3", "id": "A4D2G3", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "N", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 69, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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In dbSNP: rs756605755." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3#A4D2G3-1", "isoform_ac": "A4D2G3-1", "locus": { "end_pos": 144074220, "start_pos": 144075149, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000641663", "id": "ENST00000641663", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000493343", "id": "ENSP00000493343", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D2G3-1|O2A25_HUMAN Isoform 1 of Olfactory receptor 2A25 OS=Homo sapiens OX=9606 GN=OR2A25 PE=2 SV=2 CANONICAL=A4D2G3-1", "length": 310, "sequence": "MGGNQTSITEFLLLGFPIGPRIQMLLFGLFSLFYIFILLGNGTILGLISLDSRLHTPMYFFLSHLAVVDIACACSTVPQMLVNLLHPAKPISFAGCMTQMFLFLSFAHTECLLLVVMSYDRYVAICHPLRYSTIMTWKVCITLALTSWILGVLLALVHLVLLLPLSFCGPQKLNHFFCEIMAVLKLACADTHINEVMVLAGAVSVLVGAFFSTVISYVHILCAILKIQSGEGCQKAFSICSSHLCVVGLFYGTAIIMYVEPQYESPKEQKKYLLLFHSLFNPMLNPLIYSLRNKEVQGTLKRMLEKKRTS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:392138", "resource": "KEGG Pathway", "id": "hsa:392138", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753", "resource": "Reactome", "id": "R-HSA-381753", "name": "Olfactory Signaling Pathway" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488.1", "id": "NP_001004488.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A4D2G3#function", "annotation": "Odorant receptor.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3#function", "id": "A4D2G3", "database": "UniProtKB" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488.1", "ac": "NP_001004488.1", "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]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3", "database": "UniProtKB" } ], "name": "G protein-coupled receptor activity", "id": "GO:0004930" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3", "database": "UniProtKB" } ], "name": "olfactory receptor activity", "id": "GO:0004984" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3", "id": "A4D2G3", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": 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"https://www.ebi.ac.uk/interpro/entry/IPR000276", "id": "IPR000276", "database": "InterPro" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381753", "id": "R-HSA-381753", "database": "Reactome" }, { "url": "https://pharos.nih.gov/targets/A4D2G3", "id": "A4D2G3", "database": "PHAROS" }, { "url": "https://omabrowser.org/oma/group/CAILKIQ/", "id": "CAILKIQ", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017452", "id": "IPR017452", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000725", "id": "IPR000725", "database": "InterPro" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D2G3", "id": "A4D2G3", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" } ], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3#ptm_processing", "id": "A4D2G3", "database": "UniProtKB" } ], "relation": "attached", "position": 4, "glytoucan_ac": "", "type": "N-linked" } ], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 34606.0, "chemical_mass": 34606.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4D2G3", "name": "OR2A25", "locus": { "end_pos": 144075870, "start_pos": 144069811, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000221933", "id": "ENSG00000221933", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "type": "synonym", "resource": "refseq", "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" }, { "type": "synonym", "resource": "uniprotkb", "name": "Olfactory receptor 2A27" }, { "type": "synonym", "resource": "refseq", "name": "olfactory receptor 2A25" }, { "type": "recommended", "resource": "uniprotkb", "name": "Olfactory receptor 2A25" } ] }