KDM4B
Chr 19ADlysine demethylase 4B
The protein functions as a histone demethylase that removes methyl groups from H3K36 and H3K9me2/H3K9me3, regulating chromatin structure and gene expression during brain development. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder 65. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency as the likely mechanism of pathogenicity.
Strong evidence — appropriate for clinical testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
KDM4B · 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