| Entrez Gene ID | 11228 |
|---|---|
| Official Gene Symbol | RASSF8 (GeneCards) |
| Full name | Ras association domain family member 8 |
| Location | 12p12.1 |
| Other ids | Vega : OTTHUMG00000169087 MIM : 608231 HGNC : HGNC:13232 Ensembl : ENSG00000123094 |
| Other names | HOJ1, C12orf2 |
| Summary | This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16327 | 11228 | RASSF8 | 12 | 26230528 | 26230528 | Asymptomatic | HiSeq X Ten |
| 16391 | 11228 | RASSF8 | 12 | 26227696 | 26227696 | Asymptomatic | HiSeq X Ten |
| 17042 | 11228 | RASSF8 | 12 | 26216340 | 26216340 | Xeroderma Pigmentosum | HiSeq X Ten |