KAT14
Chr 20lysine acetyltransferase 14
Also known as: ATAC2, CRP2BP, CSRP2BP, PRO1194, dJ717M23.1
KAT14 encodes a histone acetyltransferase that functions as a component and scaffold of the ATAC complex, which acetylates histones H3 and H4 and is required for normal cell cycle progression through G1 and G2/M phases. Mutations cause autosomal dominant neurodevelopmental disorder with language impairment and behavioral abnormalities, primarily affecting cognitive and behavioral development. The gene shows minimal constraint against loss-of-function variants, suggesting tolerance to heterozygous protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
79 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 0 | 19 | 2 | 0 | 21 |
Likely Benign | 0 | 1 | 0 | 3 | 4 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 22 | 26 | 3 | 51 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KAT14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools