| Entrez Gene ID | 10735 |
|---|---|
| Official Gene Symbol | STAG2 (GeneCards) |
| Full name | stromal antigen 2 |
| Location | Xq25 |
| Other ids | Vega : OTTHUMG00000022725 MIM : 300826 HGNC : HGNC:11355 Ensembl : ENSG00000101972 |
| Other names | SA2, SA-2, SCC3B, bA517O1.1 |
| Summary | The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22141 | 10735 | STAG2 | X | 123125999 | 123125999 | Asymptomatic | HiSeq X Ten |
| 22219 | 10735 | STAG2 | X | 123286424 | 123286424 | Asymptomatic | HiSeq X Ten |
| 29316 | 10735 | STAG2 | X | 123156440 | 123156440 | Autism Spectrum Disorders | HiSeq X Ten PASM |