STAG2

STAG2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4PJU, 4PJW, 4PK7
Identifiers
Aliases	STAG2, SA-2, SA2, SCC3B, bA517O1.1, stromal antigen 2, NEDXCF, MKMS, HPE13
External IDs	OMIM: 300826 MGI: 1098583 HomoloGene: 38206 GeneCards: STAG2
Gene location (Human)
Chr.	X chromosome (human)[1]
End	124,422,664 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	42,277,185 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• GO:0001948 protein binding; • chromatin binding;
Cellular component	• cytosol; • membrane; • chromosome; • nucleoplasm; • chromatin; • chromosome, centromeric region; • cell nucleus; • cohesin complex; • nuclear matrix; • mitotic spindle pole;
Biological process	• chromosome segregation; • cell division; • negative regulation of DNA endoreduplication; • GO:0007126 meiotic cell cycle; • cell cycle; • sister chromatid cohesion; • regulation of mitotic spindle assembly;
	Sources:Amigo / QuickGO
Orthologs
	10735
	20843
	ENSG00000101972
	ENSMUSG00000025862
	Q8N3U4
	O35638
NM_001042749; NM_001042750; NM_001042751; NM_001282418; NM_006603;
	NM_001375375
	NM_001077712; NM_001290713; NM_021465; NM_001358225
NP_001036214; NP_001036215; NP_001036216; NP_001269347; NP_006594;
	NP_001362304
	NP_001071180; NP_001277642; NP_067440; NP_001345154
	Wikidata
View/Edit Human	View/Edit Mouse

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 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

GRCh38: Ensembl release 89: ENSG00000101972 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000025862 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: STAG2 stromal antigen 2".
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.
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.
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.
Cosmic. "STAG2 Gene - COSMIC". cancer.sanger.ac.uk. Retrieved 2018-02-13.
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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101972 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9305759-5] 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.

[entrez-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.

[pmid11076961-9] 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.