CDYL2

Chr 16

chromodomain Y like 2

Also known as: PCCP1

NCBI Gene: 124359 ENSG00000166446 UniProt: Q8N8U2 OMIM: 618816

The protein functions as a transcription corepressor that negatively regulates DNA-templated transcription in the nucleus. Mutations cause autosomal recessive intellectual disability with seizures and dysmorphic features. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.6), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq

Predicted to enable transcription corepressor activity. Predicted to be involved in chromatin organization and negative regulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

0.60

LOEUF

Mechanism· predicted