| Entrez Gene ID | 23263 |
|---|---|
| Official Gene Symbol | MCF2L (GeneCards) |
| Full name | MCF.2 cell line derived transforming sequence like |
| Location | 13q34 |
| Other ids | Vega : OTTHUMG00000017377 MIM : 609499 HGNC : HGNC:14576 Ensembl : ENSG00000126217 |
| Other names | DBS, OST, ARHGEF14 |
| Summary | This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 17818 | 23263 | MCF2L | 13 | 113668359 | 113668359 | Cockayne syndrome | HiSeq X Ten |