| Entrez Gene ID | 26091 |
|---|---|
| Official Gene Symbol | HERC4 (GeneCards) |
| Full name | HECT and RLD domain containing E3 ubiquitin protein ligase 4 |
| Location | 10q21.3 |
| Other ids | Vega : OTTHUMG00000018343 MIM : 609248 HGNC : HGNC:24521 Ensembl : ENSG00000148634 |
| Other names | None |
| Summary | HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14272 | 26091 | HERC4 | 10 | 69729291 | 69729291 | Asymptomatic | HiSeq X Ten |
| 14279 | 26091 | HERC4 | 10 | 69789322 | 69789322 | Asymptomatic | HiSeq X Ten |
| 29245 | 26091 | HERC4 | 10 | 69718925 | 69718925 | Autism Spectrum Disorders | HiSeq X Ten PASM |