STAG2

Cohesin subunit SA-2 (SA2) is a protein that in humans is encoded by the STAG2 gene.[5][6] SA2 is a subunit of the Cohesin complex which mediates sister chromatid cohesion, homologous recombination and DNA looping. In somatic cells cohesin is formed of SMC3, SMC1, RAD21 and either SA1 or SA2 whereas in meiosis, cohesin is formed of SMC3, SMC1B, REC8 and SA3.

STAG2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSTAG2, SA-2, SA2, SCC3B, bA517O1.1, stromal antigen 2, NEDXCF, MKMS, HPE13
External IDsOMIM: 300826 MGI: 1098583 HomoloGene: 38206 GeneCards: STAG2
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq25Start123,960,212 bp[1]
End124,422,664 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10735

20843

Ensembl

ENSG00000101972

ENSMUSG00000025862

UniProt

Q8N3U4

O35638

RefSeq (mRNA)

NM_001077712
NM_001290713
NM_021465
NM_001358225

RefSeq (protein)

NP_001071180
NP_001277642
NP_067440
NP_001345154

Location (UCSC)Chr X: 123.96 – 124.42 MbChr X: 42.15 – 42.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

STAG2 is frequently mutated in a range of cancers [7] and several other disorders.

Function

SA2 is part of the cohesin complex, which is a structure that holds the sister chromatids together after DNA replication.[8] STAG2 has been shown to interact with STAG1.[9]

Role in Disease

Of the cohesin complex, STAG2 is the subunit where the most variants have been reported in cancer. [10] This is thought to be because this gene is located in the X chromosome, therefore only one mutation is needed to inactivate it.[11]

References

  1. GRCh38: Ensembl release 89: ENSG00000101972 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025862 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Carramolino L, Lee BC, Zaballos A, Peled A, Barthelemy I, Shav-Tal Y, Prieto I, Carmi P, Gothelf Y, González de Buitrago G, Aracil M, Márquez G, Barbero JL, Zipori D (August 1997). "SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs". Gene. 195 (2): 151–9. doi:10.1016/S0378-1119(97)00121-2. PMID 9305759.
  6. "Entrez Gene: STAG2 stromal antigen 2".
  7. De Koninck M, Losada A (December 2016). "Cohesin Mutations in Cancer". Cold Spring Harbor Perspectives in Medicine. 6 (12): a026476. doi:10.1101/cshperspect.a026476. PMC 5131750. PMID 27742736.
  8. Mehta, Gunjan D.; Kumar, Ravinder; Srivastava, Sanjeeva; Ghosh, Santanu Kumar (2013-08-02). "Cohesin: Functions beyond sister chromatid cohesion". FEBS Letters. 587 (15): 2299–2312. doi:10.1016/j.febslet.2013.06.035. ISSN 1873-3468. PMID 23831059.
  9. Sumara I, Vorlaufer E, Gieffers C, Peters BH, Peters JM (November 2000). "Characterization of vertebrate cohesin complexes and their regulation in prophase". The Journal of Cell Biology. 151 (4): 749–62. doi:10.1083/jcb.151.4.749. PMC 2169443. PMID 11076961.
  10. Cosmic. "STAG2 Gene - COSMIC". cancer.sanger.ac.uk. Retrieved 2018-02-13.
  11. Kim, Jung-Sik; He, Xiaoyuan; Orr, Bernardo; Wutz, Gordana; Hill, Victoria; Peters, Jan-Michael; Compton, Duane A.; Waldman, Todd (2016-02-12). "Intact Cohesion, Anaphase, and Chromosome Segregation in Human Cells Harboring Tumor-Derived Mutations in STAG2". PLOS Genetics. 12 (2): e1005865. doi:10.1371/journal.pgen.1005865. ISSN 1553-7404. PMC 4752446. PMID 26871722.


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