CDCA2

Chr 8

cell division cycle associated 2

Also known as: PPP1R81, Repo-Man

NCBI Gene: 157313 ENSG00000184661 UniProt: Q69YH5 OMIM: 618785

The protein regulates chromosome structure during mitosis by recruiting protein phosphatase 1-gamma to chromatin, enabling chromosomes to maintain their compact architecture through anaphase and supporting nuclear envelope reformation. Mutations cause severe developmental delay, microcephaly, growth retardation, and limb malformations with autosomal recessive inheritance. This gene shows minimal constraint against loss-of-function variation based on population genetics data.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.04

LOEUF

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Mechanism