Entrez Gene ID | 6772 |
---|---|
Official Gene Symbol | STAT1 (GeneCards) |
Full name | signal transducer and activator of transcription 1 |
Location | 2q32.2 |
Other ids | Vega : OTTHUMG00000132699 MIM : 600555 HGNC : HGNC:11362 Ensembl : ENSG00000115415 |
Other names | CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91 |
Summary | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
917 | 6772 | STAT1 | 2 | 191844538 | 191844538 | Human Skin Fibroblasts | HiSeq 2500 |
2930 | 6772 | STAT1 | 2 | 191858782 | 191858782 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
3534 | 6772 | STAT1 | 2 | 191857623 | 191857623 | HiSeq 2500 HiSeq X Ten | |
29151 | 6772 | STAT1 | 2 | 191850362 | 191850362 | Autism Spectrum Disorders | HiSeq 2500 HiSeq X Ten PASM |