Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ARHGEF12 |
| Gene Name: | ARHGEF12 |
| Protein Full Name: | Rho guanine nucleotide exchange factor 12 |
| Alias: | ARHGC; KIAA0382; LARG; Leukemia-associated RhoGEF; Rho guanine nucleotide exchange factor (GEF) 12; RHO guanine nucleotide exchange factor (GEF) 12 (LARG) |
| Mass (Da): | 173232 |
| Number AA: | 1544 |
| UniProt ID: | Q9NZN5 |
| Locus ID: | 23365 |
| COSMIC ID: | ARHGEF12 |
| Gene location on chromosome: | 11q23 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20238 |
| Percent of cancer specimens with mutations: | 1.03 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | LARG-MLL fusion t(11;11)(q23;23) |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | ARHGEF12 can activate RhoA by exchanging GDP for GTP, but can also inactivate GNA12/13 by enhancing GTPase activity. Chromosomal rearrangement involving ARHGEF12 may be a cause of acute leukemia. It also has a fusion product with MLL via a t(11;11)(q23;23) translocation. |