| Entrez Gene ID | 9771 |
|---|---|
| Official Gene Symbol | RAPGEF5 (GeneCards) |
| Full name | Rap guanine nucleotide exchange factor 5 |
| Location | 7p15.3 |
| Other ids | Vega : OTTHUMG00000152525 MIM : 609527 HGNC : HGNC:16862 Ensembl : ENSG00000136237 |
| Other names | GFR, REPAC, MR-GEF |
| Summary | Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10507 | 9771 | RAPGEF5 | 7 | 22214687 | 22214687 | Asymptomatic | HiSeq X Ten |
| 11101 | 9771 | RAPGEF5 | 7 | 22383429 | 22383429 | Asymptomatic | HiSeq X Ten |
| 11370 | 9771 | RAPGEF5 | 7 | 22378457 | 22378457 | Cockayne syndrome | HiSeq X Ten |