protein
Pogo transposable element with ZNF domain
Gene
POGZ
Organism
Homo sapiens(9606)
Length
1410 aa
Mass
155,344 Da
POGZ (Pogo transposable element with ZNF domain) is a 1,410 amino acid protein that functions in cell cycle regulation and DNA repair (UniProt: Q7Z3K3). It plays critical roles in mitotic progression, kinetochore assembly, and mitotic sister chromatid cohesion through interactions with CBX5 and regulation of aurora kinase B activation. The protein also promotes homologous recombination-mediated repair of DNA double-strand breaks.
POGZ is expressed during mitotic processes and participates in chromosome segregation pathways essential for proper cell division. Mutations in POGZ are associated with White-Sutton syndrome (WHSUS), an autosomal dominant disorder characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, dysmorphic facial features, and variable features including short stature, microcephaly, strabismus, and hearing loss.
POGZ carries SFARI Category 1 classification for autism spectrum disorder and is noted as syndromic (SFARI Cat 1), indicating strong evidence for ASD association within a broader developmental or genetic syndrome context. White-Sutton syndrome frequently presents with neurodevelopmental features consistent with autism spectrum presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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)
Disease associations
White-Sutton syndromeWHSUS
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.
Sources
Last updated 5/6/2026, 5:25:24 AM