| Entrez Gene ID | 7275 |
|---|---|
| Official Gene Symbol | TUB (GeneCards) |
| Full name | tubby bipartite transcription factor |
| Location | 11p15.4 |
| Other ids | Vega : OTTHUMG00000165690 MIM : 601197 HGNC : HGNC:12406 Ensembl : ENSG00000166402 |
| Other names | rd5, RDOB |
| Summary | This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1572 | 7275 | TUB | 11 | 8122426 | 8122426 | Autism Spectrum Disorders | NextSeq500 v2 |
| 29139 | 7275 | TUB | 11 | 8122426 | 8122426 | Autism Spectrum Disorders | NextSeq500 v2 PASM |