{ "uniprot_canonical_ac": "Q9NYW5-1", "uniprot_ac": "Q9NYW5", "uniprot_id": "TA2R4_HUMAN", "mass": { "chemical_mass": 33841.0, "monoisotopic_mass": 33841.0 }, "refseq": { "ac": "NP_058640", "name": "taste receptor type 2 member 4", "summary": "This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" }, "gene_names": [ { "name": "TAS2R4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NYW5", "id": "Q9NYW5" }, { "name": "T2R4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640", "id": "NP_058640" }, { "name": "TAS2R4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640", "id": "NP_058640" } ], "protein_names": [ { "name": "Taste receptor type 2 member 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NYW5" }, { "name": "T2R4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NYW5" }, { "name": "candidate taste receptor T2R4; taste receptor, type 2, member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640", "id": "NP_058640" }, { "name": "taste receptor type 2 member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640", "id": "NP_058640" } ], "function": [ { "annotation": "Bitter receptor member TAS2R4 may have neurobiological function beyond acting as a bitter receptor.", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" }, { "database": "PubMed", "id": "32159211", "url": "https://glygen.org/publication/PubMed/32159211" } ] }, { "annotation": "Chemosensory bitter taste receptors T2R4 and T2R14 activation attenuates proliferation and migration of breast cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" }, { "database": "PubMed", "id": "31894529", "url": "https://glygen.org/publication/PubMed/31894529" } ] }, { "annotation": "Genetic Variation in the Bitter Receptors Responsible for Epicatechin Detection Are Associated with BMI in an Elderly Cohort. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" }, { "database": "PubMed", "id": "33572225", "url": "https://glygen.org/publication/PubMed/33572225" } ] }, { "annotation": "Gustducin-coupled receptor for denatonium and N(6)-propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYW5", "url": "https://www.uniprot.org/uniprot/Q9NYW5#function" }, { "database": "PubMed", "id": "19628819", "url": "https://glygen.org/publication/PubMed/19628819" } ] }, { "annotation": "In summary, genetic variations in T2R3/4 bitterness receptors may modify the papillary thyroid carcinoma (PTC) risk, and the genetically modified thyroid hormone level by those variations may be linked with the PTC-T2Rs association Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" }, { "database": "PubMed", "id": "30301923", "url": "https://glygen.org/publication/PubMed/30301923" } ] }, { "annotation": "This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" } ] }, { "annotation": "This study is the first to show an inhibitory downstream action of a T2R4 agonist on Rac1 function.", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" }, { "database": "PubMed", "id": "27873143", "url": "https://glygen.org/publication/PubMed/27873143" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1302763498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302763498" }, { "id": "rs1302763498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302763498" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNI).", "chr_id": "7", "chr_pos": "141778985", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1302763498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302763498" }, { "id": "rs1302763498", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1302763498" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNK).", "chr_id": "7", "chr_pos": "141778985", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1008665736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1008665736" }, { "id": "rs1008665736", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1008665736" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NT*).", "chr_id": "7", "chr_pos": "141778988", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NYW5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NYW5" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTS->NTL).", "chr_id": "7", "chr_pos": "141778988", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S167", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1019082138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019082138" }, { "id": "rs1019082138", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1019082138" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIG).", "chr_id": "7", "chr_pos": "141778999", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2234002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2234002" }, { "id": "rs2234002", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2234002" }, { "id": "rs2234002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2234002" }, { "id": "rs2234002", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2234002#frequency_tab" }, { "id": "rs2234002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2234002" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 171, "end_pos": 171, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NII).", "chr_id": "7", "chr_pos": "141779000", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.4914", "site_lbl": "S171", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2234002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2234002" }, { "id": "rs2234002", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2234002" }, { "id": "rs2234002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2234002" }, { "id": "rs2234002", "database": "TOPMed", 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"start_pos": 67, "end_pos": 67, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTT).", "chr_id": "7", "chr_pos": "141778688", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I67", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "56.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000127364", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127364" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000127364", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000127364" } ] }, { "tissue": { 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"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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9NYW5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NYW5" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q9NYW5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NYW5" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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Renal physiology", "date": "2001", "authors": "Kifor O, MacLeod RJ, Diaz R, Bai M, Yamaguchi T, Yao T, Kifor I, Brown EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "11208605", "url": "https://glygen.org/publication/PubMed/11208605" } ] }, { "title": "Molecular mechanisms of bitter and sweet taste transduction.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Margolskee R.F.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYW5", "url": "https://www.uniprot.org/uniprot/Q9NYW5" } ], "reference": [ { "type": "PubMed", "id": "11696554", "url": "https://glygen.org/publication/PubMed/11696554" } ] }, { "title": "Human receptors for sweet and umami taste.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Li X, Staszewski L, Xu H, Durick K, Zoller M, Adler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "11917125", "url": "https://glygen.org/publication/PubMed/11917125" } ] }, { "title": "TRPM4 is a Ca2+-activated nonselective cation channel mediating cell membrane depolarization.", "journal": "Cell", "date": "2002", "authors": "Launay P, Fleig A, Perraud AL, Scharenberg AM, Penner R, Kinet JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "12015988", "url": "https://glygen.org/publication/PubMed/12015988" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. 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Neurobiol.", "date": "2002", "authors": "Matsunami H., Montmayeur J.-P.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYW5", "url": "https://www.uniprot.org/uniprot/Q9NYW5" } ], "reference": [ { "type": "PubMed", "id": "12139982", "url": "https://glygen.org/publication/PubMed/12139982" } ] }, { "title": "Coding of sweet, bitter, and umami tastes: different receptor cells sharing similar signaling pathways.", "journal": "Cell", "date": "2003", "authors": "Zhang Y., Wu D., Mueller K.L., Chandrashekar J., Cook B., Hoon M.A., Ryba N.J., Zuker C.S.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYW5", "url": "https://www.uniprot.org/uniprot/Q9NYW5" } ], "reference": [ { "type": "PubMed", "id": "12581520", "url": "https://glygen.org/publication/PubMed/12581520" } ] }, { "title": "Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Ahmed CM, Ware DH, Lee SC, Patten CD, Ferrer-Montiel AV, Schinder AF, McPherson JD, Wagner-McPherson CB, Wasmuth JJ, Evans GA, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "1325650", "url": "https://glygen.org/publication/PubMed/1325650" } ] }, { "title": "Molecular diversity of glutamate receptors and implications for brain function.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Nakanishi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "1329206", "url": "https://glygen.org/publication/PubMed/1329206" } ] }, { "title": "TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Prawitt D, Monteilh-Zoller MK, Brixel L, Spangenberg C, Zabel B, Fleig A, Penner R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "14634208", "url": "https://glygen.org/publication/PubMed/14634208" } ] }, { "title": "Molecular cloning, expression, and sequence analysis of GPRC6A, a novel family C G-protein-coupled receptor.", "journal": "Gene", "date": "2004", "authors": "Wellendorph P, Brauner-Osborne H", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "15194188", "url": "https://glygen.org/publication/PubMed/15194188" } ] }, { "title": "Different functional roles of T1R subunits in the heteromeric taste receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Xu H, Staszewski L, Tang H, Adler E, Zoller M, Li X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "15353592", "url": "https://glygen.org/publication/PubMed/15353592" } ] }, { "title": "Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2004", "authors": "Cummins TR, Dib-Hajj SD, Waxman SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "15385606", "url": "https://glygen.org/publication/PubMed/15385606" } ] }, { "title": "Evolution of bitter taste receptors in humans and apes.", "journal": "Mol. Biol. Evol.", "date": "2005", "authors": "Fischer A, Gilad Y, Man O, Paabo S", "evidence": [ { "database": "UniProtKB", "id": "Q9NYW5", "url": "https://www.uniprot.org/uniprot/Q9NYW5" } ], "reference": [ { "type": "PubMed", "id": "15496549", "url": "https://glygen.org/publication/PubMed/15496549" } ] }, { "title": "Deorphanization of GPRC6A: a promiscuous L-alpha-amino acid receptor with preference for basic amino acids.", "journal": "Molecular pharmacology", "date": "2005", "authors": "Wellendorph P, Hansen KB, Balsgaard A, Greenwood JR, Egebjerg J, Brauner-Osborne H", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "15576628", "url": "https://glygen.org/publication/PubMed/15576628" } ] }, { "title": "Cloning and characterization of a novel mGluR1 variant from vallate papillae that functions as a receptor for L-glutamate stimuli.", "journal": "Chemical senses", "date": "2005", "authors": "San Gabriel A, Uneyama H, Yoshie S, Torii K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "15738140", "url": "https://glygen.org/publication/PubMed/15738140" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "2005", "authors": "Chen CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16634148", "url": "https://glygen.org/publication/PubMed/16634148" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "An SCN9A channelopathy causes congenital inability to experience pain.", "journal": "Nature", "date": "2006", "authors": "Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG", "evidence": [ { "database": 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Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Molecular mechanism for the umami taste synergism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Zhang F, Klebansky B, Fine RM, Xu H, Pronin A, Liu H, Tachdjian C, Li X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "19104071", "url": "https://glygen.org/publication/PubMed/19104071" } ] }, { "title": "Motile cilia of human airway epithelia are chemosensory.", "journal": "Science", "date": "2009", "authors": "Welsh M.J., Moninger T.O., Ben-Shahar Y., Kline J.N., Shah A.S.", "evidence": [ { "database": "UniProtKB", "id": "Q9NYW5", "url": "https://www.uniprot.org/uniprot/Q9NYW5" } ], "reference": [ { "type": "PubMed", "id": "19628819", "url": "https://glygen.org/publication/PubMed/19628819" } ] }, { "title": "Genetic and molecular basis of individual differences in human umami taste perception.", "journal": "PloS one", "date": "2009", "authors": "Shigemura N, Shirosaki S, Sanematsu K, Yoshida R, Ninomiya Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "19696921", "url": "https://glygen.org/publication/PubMed/19696921" } ] }, { "title": "The molecular receptive ranges of human TAS2R bitter taste receptors.", "journal": "Chemical senses", "date": "2010", "authors": "Meyerhof W, Batram C, Kuhn C, Brockhoff A, Chudoba E, Bufe B, Appendino G, Behrens M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "20022913", "url": "https://glygen.org/publication/PubMed/20022913" } ] }, { "title": "A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.", "journal": "Annals of neurology", "date": "2009", "authors": "Estacion M, Harty TP, Choi JS, Tyrrell L, Dib-Hajj SD, Waxman SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "20033988", "url": "https://glygen.org/publication/PubMed/20033988" } ] }, { "title": "Cinacalcet hydrochloride treatment significantly improves all-cause and cardiovascular survival in a large cohort of hemodialysis patients.", "journal": "Kidney international", "date": "2010", "authors": "Block GA, Zaun D, Smits G, Persky M, Brillhart S, Nieman K, Liu J, St Peter WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "20555319", "url": "https://glygen.org/publication/PubMed/20555319" } ] }, { "title": "The ADVANCE study: a randomized study to evaluate the effects of cinacalcet plus low-dose vitamin D on vascular calcification in patients on hemodialysis.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2011", "authors": "Raggi P, Chertow GM, Torres PU, Csiky B, Naso A, Nossuli K, Moustafa M, Goodman WG, Lopez N, Downey G, Dehmel B, Floege J", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "21148030", "url": "https://glygen.org/publication/PubMed/21148030" } ] }, { "title": "Human genetic polymorphisms in T1R1 and T1R3 taste receptor subunits affect their function.", "journal": "Chemical senses", "date": "2011", "authors": "Raliou M, Grauso M, Hoffmann B, Schlegel-Le-Poupon C, Nespoulous C, Debat H, Belloir C, Wiencis A, Sigoillot M, Bano SP, Trotier D, Pernollet JC, Montmayeur JP, Faurion A, Briand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "21422378", "url": "https://glygen.org/publication/PubMed/21422378" } ] }, { "title": "Molecular mechanism of species-dependent sweet taste toward artificial sweeteners.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2011", "authors": "Liu B, Ha M, Meng XY, Kaur T, Khaleduzzaman M, Zhang Z, Jiang P, Li X, Cui M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "21795555", "url": "https://glygen.org/publication/PubMed/21795555" } ] }, { "title": "Effect of cinacalcet on cardiovascular disease in patients undergoing dialysis.", "journal": "The New England journal of medicine", "date": "2012", "authors": "Chertow GM, Block GA, Correa-Rotter R, Drueke TB, Floege J, Goodman WG, Herzog CA, Kubo Y, London GM, Mahaffey KW, Mix TC, Moe SM, Trotman ML, Wheeler DC, Parfrey PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "23121374", "url": "https://glygen.org/publication/PubMed/23121374" } ] }, { "title": "Major haplotypes of the human bitter taste receptor TAS2R41 encode functional receptors for chloramphenicol.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Thalmann S, Behrens M, Meyerhof W", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "23632330", "url": "https://glygen.org/publication/PubMed/23632330" } ] }, { "title": "Pharmacology of AMG 416 (Velcalcetide), a novel peptide agonist of the calcium-sensing receptor, for the treatment of secondary hyperparathyroidism in hemodialysis patients.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2013", "authors": "Walter S, Baruch A, Dong J, Tomlinson JE, Alexander ST, Janes J, Hunter T, Yin Q, Maclean D, Bell G, Mendel DB, Johnson RM, Karim F", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "23674604", "url": "https://glygen.org/publication/PubMed/23674604" } ] }, { "title": "Novel SCN3A variants associated with focal epilepsy in children.", "journal": "Neurobiology of disease", "date": "2014", "authors": "Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24157691", "url": "https://glygen.org/publication/PubMed/24157691" } ] }, { "title": "Two distinct determinants of ligand specificity in T1R1/T1R3 (the umami taste receptor).", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Toda Y, Nakagita T, Hayakawa T, Okada S, Narukawa M, Imai H, Ishimaru Y, Misaka T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24214976", "url": "https://glygen.org/publication/PubMed/24214976" } ] }, { "title": "Velcalcetide (AMG 416), a novel peptide agonist of the calcium-sensing receptor, reduces serum parathyroid hormone and FGF23 levels in healthy male subjects.", "journal": "Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association", "date": "2014", "authors": "Martin KJ, Bell G, Pickthorn K, Huang S, Vick A, Hodsman P, Peacock M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "24235081", "url": "https://glygen.org/publication/PubMed/24235081" } ] }, { "title": "The taste of D- and L-amino acids: In vitro binding assays with cloned human bitter (TAS2Rs) and sweet (TAS1R2/TAS1R3) receptors.", "journal": "Food chemistry", "date": "2014", "authors": "Bassoli A, Borgonovo G, Caremoli F, Mancuso G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24360415", "url": "https://glygen.org/publication/PubMed/24360415" } ] }, { "title": "L-Theanine elicits umami taste via the T1R1 + T1R3 umami taste receptor.", "journal": "Amino acids", "date": "2014", "authors": "Narukawa M, Toda Y, Nakagita T, Hayashi Y, Misaka T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "24633359", "url": "https://glygen.org/publication/PubMed/24633359" } ] }, { "title": "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.", "journal": "Neuron", "date": "1989", "authors": "Lerea CL, Bunt-Milam AH, Hurley JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2534964", "url": "https://glygen.org/publication/PubMed/2534964" } ] }, { "title": "Modulation of sweet taste by umami compounds via sweet taste receptor subunit hT1R2.", "journal": "PloS one", "date": "2015", "authors": "Shim J, Son HJ, Kim Y, Kim KH, Kim JT, Moon H, Kim MJ, Misaka T, Rhyu MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "25853419", "url": "https://glygen.org/publication/PubMed/25853419" } ] }, { "title": "Characterization of the Binding Site of Aspartame in the Human Sweet Taste Receptor.", "journal": "Chemical senses", "date": "2015", "authors": "Maillet EL, Cui M, Jiang P, Mezei M, Hecht E, Quijada J, Margolskee RF, Osman R, Max M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "26377607", "url": "https://glygen.org/publication/PubMed/26377607" } ] }, { "title": "PTH-dependence of the effectiveness of cinacalcet in hemodialysis patients with secondary hyperparathyroidism.", "journal": "Scientific reports", "date": "2016", "authors": "Akizawa T, Kurita N, Mizobuchi M, Fukagawa M, Onishi Y, Yamaguchi T, Ellis AR, Fukuma S, Alan Brookhart M, Hasegawa T, Kurokawa K, Fukuhara S", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "27071541", "url": "https://glygen.org/publication/PubMed/27071541" } ] }, { "title": "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.", "journal": "Nucleic acids research", "date": "1989", "authors": "Van Dop C, Medynski DC, Apone LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2748346", "url": "https://glygen.org/publication/PubMed/2748346" } ] }, { "title": "Regulation of Rac1 GTPase activity by quinine through G-protein and bitter taste receptor T2R4.", "journal": "Molecular and cellular biochemistry", "date": "2017", "authors": "Sidhu C, Jaggupilli A, Chelikani P, Bhullar RP", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" } ], "reference": [ { "type": "PubMed", "id": "27873143", "url": "https://glygen.org/publication/PubMed/27873143" } ] }, { "title": "Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.", "journal": "Biological psychiatry", "date": "2017", "authors": "Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "28256214", "url": "https://glygen.org/publication/PubMed/28256214" } ] }, { "title": "Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2834384", "url": "https://glygen.org/publication/PubMed/2834384" } ] }, { "title": "Mutations in SCN3A cause early infantile epileptic encephalopathy.", "journal": "Annals of neurology", "date": "2018", "authors": "Zaman T, Helbig I, Bozovic IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "29466837", "url": "https://glygen.org/publication/PubMed/29466837" } ] }, { "title": "A novel calcimimetic agent, evocalcet (MT-4580/KHK7580), suppresses the parathyroid cell function with little effect on the gastrointestinal tract or CYP isozymes in vivo and in vitro.", "journal": "PloS one", "date": "2018", "authors": "Kawata T, Tokunaga S, Murai M, Masuda N, Haruyama W, Shoukei Y, Hisada Y, Yanagida T, Miyazaki H, Wada M, Akizawa T, Fukagawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "29614098", "url": "https://glygen.org/publication/PubMed/29614098" } ] }, { "title": "beta1 subunit stabilises sodium channel Nav1.7 against mechanical stress.", "journal": "The Journal of physiology", "date": "2018", "authors": "Korner J, Meents J, Machtens JP, Lampert A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "29659026", "url": "https://glygen.org/publication/PubMed/29659026" } ] }, { "title": "Co-expression of beta Subunits with the Voltage-Gated Sodium Channel NaV1.7: the Importance of Subunit Association and Phosphorylation and Their Effects on Channel Pharmacology and Biophysics.", "journal": "Journal of molecular neuroscience : MN", "date": "2018", "authors": "Sokolov MV, Henrich-Noack P, Raynoschek C, Franzen B, Larsson O, Main M, Dabrowski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "29744740", "url": "https://glygen.org/publication/PubMed/29744740" } ] }, { "title": "Structural basis for the regulation of inositol trisphosphate receptors by Ca(2+) and IP3.", "journal": "Nature structural & molecular biology", "date": "2018", "authors": "Paknejad N, Hite RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "30013099", "url": "https://glygen.org/publication/PubMed/30013099" } ] }, { "title": "Genetic variations in TAS2R3 and TAS2R4 bitterness receptors modify papillary carcinoma risk and thyroid function in Korean females.", "journal": "Scientific reports", "date": "2018", "authors": "Choi JH, Lee J, Yang S, Lee EK, Hwangbo Y, Kim J", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" } ], "reference": [ { "type": "PubMed", "id": "30301923", "url": "https://glygen.org/publication/PubMed/30301923" } ] }, { "title": "All three IP3 receptor isoforms generate Ca(2+) puffs that display similar characteristics.", "journal": "Science signaling", "date": "2018", "authors": "Lock JT, Alzayady KJ, Yule DI, Parker I", "evidence": [ { "database": "Reactome", "id": "R-HSA-9717207", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9717207" } ], "reference": [ { "type": "PubMed", "id": "30563861", "url": "https://glygen.org/publication/PubMed/30563861" } ] }, { "title": "Chemosensory bitter taste receptors T2R4 and T2R14 activation attenuates proliferation and migration of breast cancer cells.", "journal": "Molecular and cellular biochemistry", "date": "2020", "authors": "Singh N, Shaik FA, Myal Y, Chelikani P", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" } ], "reference": [ { "type": "PubMed", "id": "31894529", "url": "https://glygen.org/publication/PubMed/31894529" } ] }, { "title": "Bitter receptor member TAS2R4 may have neurobiological function beyond acting as a bitter receptor.", "journal": "Acta biochimica et biophysica Sinica", "date": "2020", "authors": "Zhu H, Liu L, Ren L, Chen J, Peng L, Shi C, Wang X, Hu S, Zhang C, Gu M, Li X", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" } ], "reference": [ { "type": "PubMed", "id": "32159211", "url": "https://glygen.org/publication/PubMed/32159211" } ] }, { "title": "Genetic Variation in the Bitter Receptors Responsible for Epicatechin Detection Are Associated with BMI in an Elderly Cohort.", "journal": "Nutrients", "date": "2021", "authors": "Turner A, Veysey M, Keely S, Scarlett CJ, Lucock M, Beckett EL", "evidence": [ { "database": "RefSeq", "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640" } ], "reference": [ { "type": "PubMed", "id": "33572225", "url": "https://glygen.org/publication/PubMed/33572225" } ] }, { "title": "Cloning and expression of a human metabotropic glutamate receptor 1 alpha: enhanced coupling on co-transfection with a glutamate transporter.", "journal": "Molecular pharmacology", "date": "1995", "authors": "Desai MA, Burnett JP, Mayne NG, Schoepp DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "7476890", "url": "https://glygen.org/publication/PubMed/7476890" } ] }, { "title": "Molecular cloning, functional expression and pharmacological characterization of the human metabotropic glutamate receptor type 4.", "journal": "Neuropharmacology", "date": "1995", "authors": "Flor PJ, Lukic S, Ruegg D, Leonhardt T, Knopfel T, Kuhn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-420499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420499" } ], "reference": [ { "type": "PubMed", "id": "7617140", "url": "https://glygen.org/publication/PubMed/7617140" } ] }, { "title": "Molecular cloning, functional expression and pharmacological characterization of the human metabotropic glutamate receptor type 2.", "journal": "The European journal of neuroscience", "date": "1995", "authors": "Flor PJ, Lindauer K, Puttner I, Ruegg D, Lukic S, Knopfel T, Kuhn R", "evidence": [ { 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