KDM4C
Chr 9lysine demethylase 4C
Also known as: GASC1, JHDM3C, JMJD2C, TDRD14C
The KDM4C protein is a histone demethylase that specifically removes trimethyl groups from lysine-9 and lysine-36 residues of histone H3, playing a central role in gene expression regulation through chromatin modification. Mutations in this gene cause intellectual disability with dysmorphic features, which follows an autosomal dominant inheritance pattern. The condition typically involves developmental delays and distinctive facial features, representing a relatively recently described neurodevelopmental disorder.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
409 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 | 151 | 0 | 151 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 1 | 150 | 45 | 0 | 196 |
Likely Benign | 0 | 7 | 5 | 4 | 16 |
Benign | 0 | 1 | 2 | 5 | 8 |
| Total | 1 | 158 | 209 | 9 | 377 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KDM4C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →External Resources
Links to major genomics databases and tools