STAG3 (gene)

Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene.[5] STAG3 protein is a component of a cohesin complex that regulates the separation of sister chromatids specifically during meiosis. STAG3 appears to participate in sister-chromatid cohesion throughout the meiotic process in human oocytes.[6]

STAG3
Identifiers
Aliases	STAG3, stromal antigen 3
External IDs	OMIM: 608489 MGI: 1355311 HomoloGene: 40844 GeneCards: STAG3
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q22.1 Start 100,177,563 bp[1] End 100,221,488 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 77.01 cM Start 138,280,240 bp[2] End 138,312,393 bp[2]
Gene ontology Molecular function • chromatin binding • GO:0001948 protein binding Cellular component • synaptonemal complex • meiotic cohesin complex • chromosome, centromeric region • cell nucleus • chromosome • extracellular • chromatin • cohesin complex Biological process • cell cycle • GO:0007126 meiotic cell cycle • synaptonemal complex assembly • chromosome segregation • sister chromatid cohesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10734	50878
Ensembl	ENSG00000066923	ENSMUSG00000036928
UniProt	Q9UJ98	O70576
RefSeq (mRNA)	NM_001282716 NM_001282717 NM_001282718 NM_012447 NM_001375438	NM_016964
RefSeq (protein)	NP_001269645 NP_001269646 NP_001269647 NP_036579 NP_001362367	NP_058660
Location (UCSC)	Chr 7: 100.18 – 100.22 Mb	Chr 5: 138.28 – 138.31 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

A homozygous 1-bp deletion inducing a frameshift mutation in STAG3 causes premature ovarian failure.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000066923 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036928 - 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. "Entrez Gene: Stromal antigen 3".
6. Garcia-Cruz R, Brieño MA, Roig I, Grossmann M, Velilla E, Pujol A, Cabero L, Pessarrodona A, Barbero JL, Garcia Caldés M (2010). "Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes". Hum. Reprod. 25 (9): 2316–27. doi:10.1093/humrep/deq180. PMID 20634189.
7. Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E (March 2014). "Mutant cohesin in premature ovarian failure". The New England Journal of Medicine. 370 (10): 943–9. doi:10.1056/NEJMoa1309635. PMC 4068824. PMID 24597867.

Further reading

• Quaye L, Dafou D, Ramus SJ, Song H, Gentry-Maharaj A, Maharaj AG, Notaridou M, Hogdall E, Kjaer SK, Christensen L, Hogdall C, Easton DF, Jacobs I, Menon U, Pharoah PD, Gayther SA (May 2009). "Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival". Human Molecular Genetics. 18 (10): 1869–78. doi:10.1093/hmg/ddp107. PMID 19270026.
• Pezzi N, Prieto I, Kremer L, Pérez Jurado LA, Valero C, Del Mazo J, Martínez-A C, Barbero JL (March 2000). "STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion". FASEB Journal. 14 (3): 581–92. doi:10.1096/fasebj.14.3.581. PMID 10698974.
• Prieto I, Suja JA, Pezzi N, Kremer L, Martínez-A C, Rufas JS, Barbero JL (August 2001). "Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I". Nature Cell Biology. 3 (8): 761–6. doi:10.1038/35087082. PMID 11483963.
• Notaridou M, Quaye L, Dafou D, Jones C, Song H, Høgdall E, Kjaer SK, Christensen L, Høgdall C, Blaakaer J, McGuire V, Wu AH, Van Den Berg DJ, Pike MC, Gentry-Maharaj A, Wozniak E, Sher T, Jacobs IJ, Tyrer J, Schildkraut JM, Moorman PG, Iversen ES, Jakubowska A, Mędrek K, Lubiński J, Ness RB, Moysich KB, Lurie G, Wilkens LR, Carney ME, Wang-Gohrke S, Doherty JA, Rossing MA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Beesley J, Gronwald J, Fasching PA, Chang-Claude J, Goodman MT, Chenevix-Trench G, Berchuck A, Pearce CL, Whittemore AS, Menon U, Pharoah PD, Gayther SA, Ramus SJ (May 2011). "Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer". International Journal of Cancer. 128 (9): 2063–74. doi:10.1002/ijc.25554. PMC 3098608. PMID 20635389.
• Prieto I, Pezzi N, Buesa JM, Kremer L, Barthelemy I, Carreiro C, Roncal F, Martinez A, Gomez L, Fernandez R, Martinez-A C, Barbero JL (June 2002). "STAG2 and Rad21 mammalian mitotic cohesins are implicated in meiosis". EMBO Reports. 3 (6): 543–50. doi:10.1093/embo-reports/kvf108. PMC 1084142. PMID 12034751.
• Barber TD, McManus K, Yuen KW, Reis M, Parmigiani G, Shen D, Barrett I, Nouhi Y, Spencer F, Markowitz S, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C, Hieter P (March 2008). "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National Academy of Sciences of the United States of America. 105 (9): 3443–8. doi:10.1073/pnas.0712384105. PMC 2265152. PMID 18299561.
• Maeshima K, Yoshida K, Shirahige K (September 2008). "[Function of cohesin in transcription]". Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme. 53 (11): 1337–44. PMID 18788457.