STAG3 (gene)
| Stromal antigen 3 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbol | STAG3 | ||||||||||
| External IDs | OMIM: 608489 HomoloGene: 40844 GeneCards: STAG3 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 10734 | 50878 | |||||||||
| Ensembl | ENSG00000066923 | ENSMUSG00000036928 | |||||||||
| UniProt | Q9UJ98 | O70576 | |||||||||
| RefSeq (mRNA) | NM_001282716 | NM_016964 | |||||||||
| RefSeq (protein) | NP_001269645 | NP_058660 | |||||||||
| Location (UCSC) |
Chr 7: 100.18 – 100.22 Mb |
Chr 5: 138.28 – 138.31 Mb | |||||||||
| PubMed search | |||||||||||
Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene.[1]
A homozygous 1-bp deletion inducing a frameshift mutation in STAG3 causes premature ovarian failure.[2]
References
- ↑ "Entrez Gene: Stromal antigen 3". Retrieved 2013-12-04.
- ↑ Caburet, Sandrine; Arboleda, Valerie A.; Llano, Elena; Overbeek, Paul A.; Barbero, Jose Luis; Oka, Kazuhiro; Harrison, Wilbur; Vaiman, Daniel; Ben-Neriah, Ziva; García-Tuñón, Ignacio; Fellous, Marc; Pendás, Alberto M.; Veitia, Reiner A.; Vilain, Eric (2014). "Mutant Cohesin in Premature Ovarian Failure". New England Journal of Medicine 370 (10): 943–949. doi:10.1056/NEJMoa1309635. ISSN 0028-4793.
Further reading
- Quaye, L.; Dafou, D.; Ramus, S. J.; Song, H.; Gentry-Maharaj, A. G.; Notaridou, M.; Hogdall, E.; Kjaer, S. K.; Christensen, L.; Hogdall, C.; Easton, D. F.; Jacobs, I.; Menon, U.; Pharoah, P. D. P.; Gayther, S. A. (2009). "Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival". Human Molecular Genetics 18 (10): 1869–1878. doi:10.1093/hmg/ddp107. PMID 19270026.
- Pezzi, N.; Prieto, I.; Kremer, L.; Pérez Jurado, L. A.; Valero, C.; Del Mazo, J.; Martínez-a, C.; Barbero, J. L. (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): 581–592. PMID 10698974.
- Prieto, I.; Suja, J. A.; Pezzi, N.; Kremer, L.; Martínez-a, C.; Rufas, J. S.; Barbero, J. L. (2001). "Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I". Nature Cell Biology 3 (8): 761–766. doi:10.1038/35087082. PMID 11483963.
- Notaridou, M.; Quaye, L.; Dafou, D.; Jones, C.; Song, H.; Høgdall, E.; Kjaer, S. K.; Christensen, L.; Høgdall, C.; Blaakaer, J.; McGuire, V.; Wu, A. H.; Van Den Berg, D. J.; Pike, M. C.; Gentry-Maharaj, A.; Wozniak, E.; Sher, T.; Jacobs, I. J.; Tyrer, J.; Schildkraut, J. M.; Moorman, P. G.; Iversen, E. S.; Jakubowska, A.; Mędrek, K.; Lubiński, J.; Ness, R. B.; Moysich, K. B.; Lurie, G.; Wilkens, L. R.; Carney, M. E. (2011). "Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer". International Journal of Cancer 128 (9): 2063–2074. doi:10.1002/ijc.25554. PMC 3098608. PMID 20635389.
- Prieto, I.; Pezzi, N.; Buesa, J. M.; Kremer, L.; Barthelemy, I.; Carreiro, C.; Roncal, F.; Martinez, A.; Gomez, L.; Fernandez, R. L.; Martinez-a, C.; Barbero, J. L. (2002). "STAG2 and Rad21 mammalian mitotic cohesins are implicated in meiosis". EMBO Reports 3 (6): 543–550. doi:10.1093/embo-reports/kvf108. PMC 1084142. PMID 12034751.
- Barber, T. D.; McManus, K.; Yuen, K. W. Y.; Reis, M.; Parmigiani, G.; Shen, D.; Barrett, I.; Nouhi, Y.; Spencer, F.; Markowitz, S.; Velculescu, V. E.; Kinzler, K. W.; Vogelstein, B.; Lengauer, C.; Hieter, P. (2008). "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National Academy of Sciences 105 (9): 3443–3448. doi:10.1073/pnas.0712384105. PMC 2265152. PMID 18299561.
- Maeshima, K.; Yoshida, K.; Shirahige, K. (2008). "Function of cohesin in transcription". Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 53 (11): 1337–1344. PMID 18788457.
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