STAG2 gene

stromal antigen 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • MULLEGAMA-KLEIN-MARTINEZ SYNDROME
  • HOLOPROSENCEPHALY 13, X-LINKED

From UniProt:

Neurodevelopmental disorder, X-linked, with craniofacial abnormalities (NEDXCF): An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. [MIM:301022]

Cytogenetic Location: Xq25, which is the long (q) arm of the X chromosome at position 25

Molecular Location: base pairs 123,960,560 to 124,102,656 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq25, which is the long (q) arm of the X chromosome at position 25
  • bA517O1.1
  • HPE13
  • MKMS
  • NEDXCF
  • SA-2
  • SA2
  • SCC3B