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: | ARHGEF4 |
| Gene Name: | ARHGEF4 |
| Protein Full Name: | Rho guanine nucleotide exchange factor 4 |
| Alias: | APC-stimulated guanine nucleotide exchange factor |
| Mass (Da): | 79067 |
| Number AA: | 690 |
| UniProt ID: | Q9NR80 |
| Locus ID: | 50649 |
| COSMIC ID: | ARHGEF4 |
| Gene location on chromosome: | 2q22 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19782 |
| Percent of cancer specimens with mutations: | 0.66 |
| Normal role description: | ARHGEF4 is a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. If mutated to increase function (gain of funtion) this protein can promote oncogenesis via the JNK pathway which leads to Fos/Jun activation and pro-growth singnals. This oncogene in know to play a role in angiogenesis. |
| Commentary on involvement of protein in cancer: | Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression. Expressed at high levels in the brain, skeletal muscle and testis and at low levels in the kidney, lung, small intestine, ovary and prostate. Expression is aberrantly enhanced in most colorectal tumors. Isoform 3 interacts with RHOA and RAC1, and (via ABR domain) with APC. Found in a complex consisting of ARHGEF4, APC and CTNNB1. |