| Entrez Gene ID | 9681 |
|---|---|
| Official Gene Symbol | DEPDC5 (GeneCards) |
| Full name | DEP domain containing 5 |
| Location | 22q12.2-q12.3 |
| Other ids | Vega : OTTHUMG00000030926 MIM : 614191 HGNC : HGNC:18423 Ensembl : ENSG00000100150 |
| Other names | DEP.5, FFEVF, FFEVF1 |
| Summary | This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 604 | 9681 | DEPDC5 | 22 | 32179893 | 32179893 | Focal Cortical Dysplasias | MiSeq |