{"entity":{"id":"arhgef12","kind":"target","name":"ARHGEF12","aka":["Rho guanine nucleotide exchange factor 12","KIAA0382"],"tldr":"ARHGEF12 (Rho guanine nucleotide exchange factor 12) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Renal cell carcinoma, Skin cancer and 5 more.","summary":"Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Promotes endothelial cell and actin stress fibre reorientation in response to mechanotransduction.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.16, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14193","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14193"},{"label":"UniProt Q9NZN5","url":"https://www.uniprot.org/uniprotkb/Q9NZN5/entry"},{"label":"NCBI Gene 23365","url":"https://www.ncbi.nlm.nih.gov/gene/23365"},{"label":"Ensembl ENSG00000196914","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196914"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","rcc","skin-cancer","colorectal","lung-cancer","gastric","clear-cell-rcc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"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: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGEF12","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14193","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14193","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZN5","url":"https://www.uniprot.org/uniprotkb/Q9NZN5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196914","url":"https://platform.opentargets.org/target/ENSG00000196914/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.51, melanoma 0.52, skin cancer 0.57, breast cancer 0.54, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ARHGEF12","url":"https://www.intogen.org/search?gene=ARHGEF12","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:14193","ensembl":"ENSG00000196914","uniprot":"Q9NZN5","entrez":"23365","biology":"Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Promotes endothelial cell and actin stress fibre reorientation in response to mechanotransduction. Location: Cytoplasm; Membrane (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/arhgef12/","neighbours":{"collection":[{"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":"clear-cell-rcc","kind":"cancer","name":"Clear cell renal cell carcinoma","route":"/cancers/clear-cell-rcc/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}