POGZ
Function
Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms (PubMed:20562864). Promotes the repair of DNA double-strand breaks through the homologous recombination pathway (PubMed:26721387).
Involvement in disease
Defects in POGZ may be associated with neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome).
White-Sutton syndrome
WHSUS
An autosomal dominant syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation increases its interaction with PSIP1.
Cellular localization
- Nucleus
- Chromosome
- Cytoplasm
- According to some authors, it is not localized to mitotic chromatin (PubMed:19244240). Recruited to trimethylated 'Lys-9' of histone H3 (H3K9me3).
Alternative names
KIAA0461, SUHW5, ZNF280E, ZNF635, Nbla00003, POGZ, Pogo transposable element with ZNF domain, Suppressor of hairy wing homolog 5, Zinc finger protein 280E, Zinc finger protein 635