YEATS2

Chr 3AD

YEATS domain containing 2

Also known as: FAME4

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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.281 OMIM phenotype
Clinical SummaryYEATS2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.996
Z-score 6.56
OE 0.18 (0.110.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.97Z-score
OE missense 0.90 (0.850.96)
695 obs / 770.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.110.28)
00.351.4
Missense OE0.90 (0.850.96)
00.61.4
Synonymous OE0.92
01.21.6
LoF obs/exp: 13 / 73.9Missense obs/exp: 695 / 770.9Syn Z: 1.04
DN
0.2897th %ile
GOF
0.12100th %ile
LOF
0.79top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.28

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

YEATS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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