ARHGEF12
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.
Overview
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.
Open 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.
- 3 · How drugs use it
No product in this corpus aims at ARHGEF12 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:14193 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9NZN5 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000196914 (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)); IntOGen ARHGEF12 (driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"ARHGEF12" OR ABSTRACT:"ARHGEF12" OR TITLE:"Rho guanine nucleotide exchange factor 12" OR ABSTRACT:"Rho guanine nucleotide exchange factor 12" OR TITLE:"KIAA0382" OR ABSTRACT:"KIAA0382") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ARHGEF12, not a curated reading list.
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