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.
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.
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.
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.
Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.
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).
First described 1997. Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". Source.
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)
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).
Query 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.
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, Skin cancer (all types), IntOGen.
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, Skin cancer (all types), IntOGen.
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, Skin cancer (all types), IntOGen.
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, IntOGen, Lung cancer (all types).
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, Skin cancer (all types), IntOGen.
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, IntOGen, Breast cancer (all types).
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, IntOGen, Open Targets Platform.
Shares Clear cell renal cell carcinoma, Renal cell carcinoma, IntOGen.