{"entity":{"id":"gnaq","kind":"target","name":"GNAQ","aka":["G protein subunit alpha q","Guanine nucleotide-binding protein G(q) subunit alpha","G-ALPHA-q"],"tldr":"GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Hepatocellular carcinoma, Breast cancer and 3 more.","summary":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 4 variants, naming Vemurafenib, Trametinib, Mirdametinib and PLX4720 and others. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.87, literature 0.87, genetic association 0.03, somatic mutation 0.95, animal model 0.59). IntOGen calls it a driver in 4 cohorts (2 activating, 1 loss-of-function), covering Hepatocellular Carcinoma, Non-Small Cell Lung Cancer, Cutaneous Melanoma, Uveal Melanoma. In OnCo, 1 product record names it (Darovasertib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4390"},{"label":"UniProt P50148","url":"https://www.uniprot.org/uniprotkb/P50148/entry"},{"label":"NCBI Gene 2776","url":"https://www.ncbi.nlm.nih.gov/gene/2776"},{"label":"Ensembl ENSG00000156052","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156052"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","hcc","breast-cancer","melanoma","uveal-melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["darovasertib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct03947385","nct05415072"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 9 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Congenital Hemangioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNAQ","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4390","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50148","url":"https://www.uniprot.org/uniprotkb/P50148/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNAQ","url":"https://civicdb.org/features/2317","note":"9 evidence items, 0 assertions, 4 variants; diseases: Uveal Melanoma, Skin Melanoma, Congenital Hemangioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000156052","url":"https://platform.opentargets.org/target/ENSG00000156052/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: melanoma 0.72, skin cancer 0.62, ocular melanoma 0.64, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen GNAQ","url":"https://www.intogen.org/search?gene=GNAQ","note":"driver in 4 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:4390","ensembl":"ENSG00000156052","uniprot":"P50148","entrez":"2776","biology":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins. Signalling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNAQ activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Location: Cell membrane; Golgi apparatus; Nucleus; Nucleus membrane (UniProt). Locus 9q21.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.62 with skin cancer (MONDO_0002898)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Melanoma: Open Targets association 0.72 with melanoma (MONDO_0005105); CIViC evidence names this disease","Uveal melanoma: Open Targets association 0.64 with ocular melanoma (MONDO_0006325); CIViC evidence names this disease","Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/gnaq/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"},{"id":"uveal-melanoma","kind":"cancer","name":"Uveal melanoma","route":"/cancers/uveal-melanoma/"}],"drug":[{"id":"darovasertib","kind":"drug","name":"Darovasertib","route":"/drugs/darovasertib/"}],"trial":[{"id":"nct05415072","kind":"trial","name":"A Phase I/II Study of DYP688 in Patients With Metastatic Uveal Melanoma and Other GNAQ/11 Mutant Melanomas","route":"/trials/nct05415072/"},{"id":"nct03947385","kind":"trial","name":"Study of IDE196 in Patients With Solid Tumors Harboring GNAQ/11 Mutations or PRKC Fusions","route":"/trials/nct03947385/"}]}}