STAG2
Description
The STAG2 (STAG2 cohesin complex component) is a protein-coding gene located on chromosome X.
Cohesin subunit SA-2 (SA2) is a protein encoded by the STAG2 gene in humans. SA2 is a component of the Cohesin complex, which plays a critical role in sister chromatid cohesion, homologous recombination, and DNA looping. In somatic cells, cohesin is formed by SMC3, SMC1, RAD21, and either SA1 or SA2. During meiosis, cohesin is formed by SMC3, SMC1B, REC8, and SA3. STAG2 mutations are frequently observed in various cancers and other disorders. SA2 interacts with the ring-like structure composed of SMC1A, SMC3, and RAD21, forming the core of the cohesin complex. This ring-like structure binds chromosomes together until the cohesin complex degrades during cell division, enabling the replicated chromosomes to separate into two new cells.
STAG2 is also known as HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B, bA517O1.1.
Associated Diseases
- Neurodevelopmental disorder, X-linked, with craniofacial abnormalities
- Xq25 microduplication syndrome
- Semilobar holoprosencephaly
- Alobar holoprosencephaly
- Holoprosencephaly 13, X-linked
