| Entrez Gene ID | 6721 |
|---|---|
| Official Gene Symbol | SREBF2 (GeneCards) |
| Full name | sterol regulatory element binding transcription factor 2 |
| Location | 22q13.2 |
| Other ids | Vega : OTTHUMG00000151261 MIM : 600481 HGNC : HGNC:11290 Ensembl : ENSG00000198911 |
| Other names | SREBP2, bHLHd2, SREBP-2 |
| Summary | This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29155 | 6721 | SREBF2 | 22 | 42294664 | 42294664 | Autism Spectrum Disorders | PASM |