SA2 ist ein Gen, das durch das Symbol STAG2 kodiert wird. Es ist auch bekannt als: Cohesin subunit SA-2; SCC3 homolog 2; Stromal antigen 2; STAG2. SA2 hat eine Masse von 141.33kDa, eine Aminosäurelänge von 1231, und ist an Neurodevelopmental disorder, X-linked, with craniofacial abnormalities beteiligt.
Wir bieten 4 antikörper gegen SA2, aufgewachsen in Kaninchen, Ziege und Ratte, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the SCC3 family.
Posttranslationale Modifikation
Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).
Zellort
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.
