CECR2

Chr 22

CECR2 histone acetyl-lysine reader

NCBI Gene: 27443 ENSG00000099954 UniProt: Q9BXF3

The protein functions as a regulatory subunit of ATP-dependent chromatin remodeling complexes that organize nucleosome arrays and facilitate DNA replication, transcription, and repair, with critical roles in neural tube closure and inner ear development during embryogenesis. Mutations cause Cat Eye Syndrome, which affects multiple organ systems including craniofacial, cardiac, and genitourinary structures. This gene is highly constrained against loss-of-function variants, and inheritance follows an autosomal dominant pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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