YEATS2

Chr 3AD

YEATS domain containing 2

Also known as: FAME4

NCBI Gene: 55689 ENSG00000163872 UniProt: Q9ULM3 OMIM: 613373

YEATS2 encodes a chromatin reader component of the ATAC complex that recognizes crotonylated histone H3 and facilitates histone acetyltransferase activity at active promoters and enhancers. Mutations cause familial adult myoclonic epilepsy with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.28), indicating intolerance to haploinsufficiency in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Summary: The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Epilepsy, myoclonic, familial adult, 4MIM #615127

UniProtEpilepsy, familial adult myoclonic, 4

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

0.28

LOEUF· LoF intol.

LOF

Mechanism· predicted