POGZ gene

pogo transposable element with ZNF domain

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

From UniProt:

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.

From NCBI Gene:

  • White-sutton syndrome

From UniProt:

White-Sutton syndrome (WHSUS): A mental retardation syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss. [MIM:616364]

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).

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3

Molecular Location: base pairs 151,402,724 to 151,459,465 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3
  • MRD37
  • WHSUS
  • ZNF280E
  • ZNF635
  • ZNF635m