SA2 est un gène codé par le symbole STAG2. Il est également connu sous le nom de: Cohesin subunit SA-2; SCC3 homolog 2; Stromal antigen 2; STAG2. SA2 a une masse de 141.33kDa, une longueur d'acide aminé de 1231, et est impliqué dans Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.
Nous proposons 4 des anticorps contre SA2, élevé dans Lapin, Chèvre et Rat, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé Entrez
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.
Implication dans la maladie
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities: 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.
Similitudes de séquence
Belongs to the SCC3 family.
Modification post-traductionnelle
Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).
Localisation cellulaire
Nucleus. Chromosome. Chromosome > Centromere.
Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK1, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of cohesin is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex.
