{ "uniprot_canonical_ac": "O15552-1", "uniprot_ac": "O15552", "uniprot_id": "FFAR2_HUMAN", "mass": { "chemical_mass": 37144.0, "monoisotopic_mass": 37144.0 }, "refseq": { "ac": "NP_005297", "name": "free fatty acid receptor 2", "summary": "This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, "gene_names": [ { "name": "FFAR2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15552", "id": "O15552" }, { "name": "FFA2R; GPR43", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297", "id": "NP_005297" }, { "name": "FFA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15552", "id": "O15552" }, { "name": "FFAR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297", "id": "NP_005297" }, { "name": "GPCR43", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15552", "id": "O15552" }, { "name": "GPR43", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15552", "id": "O15552" } ], "protein_names": [ { "name": "Free fatty acid receptor 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15552" }, { "name": "G-protein coupled receptor 43", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15552" }, { "name": "free fatty acid activated receptor 2; G-protein coupled receptor 43; fatty acid receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297", "id": "NP_005297" }, { "name": "free fatty acid receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297", "id": "NP_005297" } ], "function": [ { "annotation": "Butyrate dictates ferroptosis sensitivity through FFAR2-mTOR signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "37185889", "url": "https://glygen.org/publication/PubMed/37185889" } ] }, { "annotation": "Constitutively active GPR43 is crucial for proper leukocyte differentiation.", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "36468834", "url": "https://glygen.org/publication/PubMed/36468834" } ] }, { "annotation": "Dietary Fiber Improves Skin Wound Healing and Scar Formation through the Metabolite-Sensing Receptor GPR43.", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "36965576", "url": "https://glygen.org/publication/PubMed/36965576" } ] }, { "annotation": "FFA2R is expressed on leukocytes and activated by short-chain fatty acids.", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "12684041", "url": "https://glygen.org/publication/PubMed/12684041" } ] }, { "annotation": "G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins but also to the Gq family (PubMed:12496283, PubMed:12711604, PubMed:23589301). Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation. May play a role in glucose homeostasis by regulating the secretion of GLP-1, in response to short-chain fatty acids accumulating in the intestine. May also regulate the production of LEP/Leptin, a hormone acting on the central nervous system to inhibit food intake. Finally, may also regulate whole-body energy homeostasis through adipogenesis regulating both differentiation and lipid storage of adipocytes. In parallel to its role in energy homeostasis, may also mediate the activation of the inflammatory and immune responses by SCFA in the intestine, regulating the rapid production of chemokines and cytokines. May also play a role in the resolution of the inflammatory response and control chemotaxis in neutrophils. In addition to SCFAs, may also be activated by the extracellular lectin FCN1 in a process leading to activation of monocytes and inducing the secretion of interleukin-8/IL-8 in response to the presence of microbes (PubMed:21037097). Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably acetate, propionate and butyrate (PubMed:12496283, PubMed:12711604). Exhibits a SCFA-independent constitutive G protein-coupled receptor activity (PubMed:23066016).", "evidence": [ { "database": "UniProtKB", "id": "O15552", "url": "https://www.uniprot.org/uniprot/O15552#function" }, { "database": "PubMed", "id": "21037097", "url": "https://glygen.org/publication/PubMed/21037097" }, { "database": "PubMed", "id": "12496283", "url": "https://glygen.org/publication/PubMed/12496283" }, { "database": "PubMed", "id": "12684041", "url": "https://glygen.org/publication/PubMed/12684041" }, { "database": "PubMed", "id": "12711604", "url": "https://glygen.org/publication/PubMed/12711604" }, { "database": "PubMed", "id": "18801738", "url": "https://glygen.org/publication/PubMed/18801738" }, { "database": "PubMed", "id": "23589301", "url": "https://glygen.org/publication/PubMed/23589301" }, { "database": "PubMed", "id": "23066016", "url": "https://glygen.org/publication/PubMed/23066016" } ] }, { "annotation": "Phosphorylation bar-coding of free fatty acid receptor 2 is generated in a tissue-specific manner. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "38085667", "url": "https://glygen.org/publication/PubMed/38085667" } ] }, { "annotation": "The highly selective expression of GPR43 in leukocytes, particularly polymorphonuclear cells, suggests a role in the recruitment of these cell populations toward sites of bacterial infection", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "12711604", "url": "https://glygen.org/publication/PubMed/12711604" } ] }, { "annotation": "This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" } ] }, { "annotation": "Upregulated expression of FFAR2 and SOC3 genes is associated with gout.", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" }, { "database": "PubMed", "id": "35731142", "url": "https://glygen.org/publication/PubMed/35731142" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs779454579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779454579" }, { "id": "rs779454579", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779454579" }, { "id": "rs779454579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779454579#frequency_tab" }, { "id": "rs779454579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779454579" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 169, "end_pos": 169, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFA).", "chr_id": "19", "chr_pos": "35450219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777610699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777610699" }, { "id": "rs777610699", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777610699" }, { "id": "rs777610699", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777610699" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 173, "end_pos": 173, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQL->NQS).", "chr_id": "19", "chr_pos": "35450232", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766072844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766072844" }, { "id": "rs766072844", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766072844" }, { "id": "rs766072844", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766072844#frequency_tab" }, { "id": "rs766072844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766072844" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 295, "end_pos": 295, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQG->NQS).", "chr_id": "19", "chr_pos": "35450597", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15552", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15552" } ], "glycoeffect": [], "start_pos": 301, "end_pos": 301, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "35450615", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R301", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O15552", "database": "BioMuta", "url": 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"" }, { "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": 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"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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://glygen.org/publication/PubMed/16182515" } ] }, { "title": "Galphaq binds to p110alpha/p85alpha phosphoinositide 3-kinase and displaces Ras.", "journal": "The Biochemical journal", "date": "2006", "authors": "Ballou LM, Chattopadhyay M, Li Y, Scarlata S, Lin RZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16268778", "url": "https://glygen.org/publication/PubMed/16268778" } ] }, { "title": "Snapshot of activated G proteins at the membrane: the Galphaq-GRK2-Gbetagamma complex.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Tesmer VM, Kawano T, Shankaranarayanan A, Kozasa T, Tesmer JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "16339447", "url": "https://glygen.org/publication/PubMed/16339447" } ] }, { 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"Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Soundararajan M, Willard FS, 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-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Galphaq binds two effectors separately in cells: evidence for predetermined signaling pathways.", "journal": "Biophysical journal", "date": "2008", "authors": "Golebiewska U, Scarlata S", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18515384", "url": "https://glygen.org/publication/PubMed/18515384" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Conserved polar residues in transmembrane domains V, VI, and VII of free fatty acid receptor 2 and free fatty acid receptor 3 are required for the binding and function of short chain fatty acids.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Stoddart LA, Smith NJ, Jenkins L, Brown AJ, Milligan G", "evidence": [ { "database": "UniProtKB", "id": "O15552", "url": "https://www.uniprot.org/uniprot/O15552" } ], "reference": [ { "type": "PubMed", "id": "18801738", "url": "https://glygen.org/publication/PubMed/18801738" } ] }, { "title": "Assembly of high order G alpha q-effector complexes with RGS proteins.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Shankaranarayanan A, Thal DM, Tesmer VM, Roman DL, Neubig RR, Kozasa T, Tesmer JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "18936096", "url": "https://glygen.org/publication/PubMed/18936096" } ] }, { "title": "G alpha 16, a G protein alpha subunit specifically expressed in hematopoietic cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Amatruda TT 3rd, Steele DA, Slepak VZ, Simon MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476" } ], "reference": [ { "type": "PubMed", "id": "1905813", "url": "https://glygen.org/publication/PubMed/1905813" } ] }, { "title": "Allosteric rescuing of loss-of-function FFAR2 mutations.", "journal": "FEBS letters", "date": "2010", "authors": "Swaminath G, Jaeckel P, Guo Q, Cardozo M, Weiszmann J, Lindberg R, Wang Y, Schwandner R, Li Y", "evidence": [ { "database": "UniProtKB", "id": "O15552", "url": "https://www.uniprot.org/uniprot/O15552" } ], "reference": [ { "type": "PubMed", "id": "20837008", "url": "https://glygen.org/publication/PubMed/20837008" } ] }, { "title": "Secreted M-ficolin anchors onto monocyte transmembrane G protein-coupled receptor 43 and cross talks with plasma C-reactive protein to mediate immune signaling and regulate host defense.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010-12-01", "authors": "Zhang Jing, Yang Lifeng, Ang Zhiwei, Yoong Sia Lee, Tran Thi Thu Thuy, Anand Ganesh Srinivasan, Tan Nguan Soon, Ho Bow, Ding Jeak Ling", "evidence": [ { "database": "UniProtKB", "id": "O15552", "url": "https://www.uniprot.org/uniprot/O15552" } ], "reference": [ { "type": "PubMed", "id": "21037097", "url": 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Societies for Experimental Biology", "date": "2023-01", "authors": "Miyasato Sosuke, Iwata Kurumi, Mura Reika, Nakamura Shou, Yanagida Keisuke, Shindou Hideo, Nagata Yosuke, Kawahara Masahiro, Yamaguchi Satoshi, Aoki Junken, Inoue Asuka, Nagamune Teruyuki, Shimizu Takao, Nakamura Motonao", "evidence": [ { "database": "RefSeq", "id": "NP_005297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005297" } ], "reference": [ { "type": "PubMed", "id": "36468834", "url": "https://glygen.org/publication/PubMed/36468834" } ] }, { "title": "Dietary Fiber Improves Skin Wound Healing and Scar Formation through the Metabolite-Sensing Receptor GPR43.", "journal": "The Journal of investigative dermatology", "date": "2023-09", "authors": "Canesso Maria Cecilia Campos, Cassini-Vieira Puebla, Moreira Camila Francisco, Luong Suzanne, Rachid Milene Alvarenga, Martins Flaviano Santos, Teixeira Mauro Martins, Vieira Angelica Thomas, Mackay Charles Reay, Barcelos Luciola Silva", "evidence": [ { "database": 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