JMJD8
Chr 16jumonji domain containing 8
Also known as: C16orf20, PP14397
JMJD8 encodes a protein that regulates TNF-induced NF-kappaB signaling and controls angiogenesis and cellular metabolism through interaction with pyruvate kinase. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay, with onset in early childhood. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
JMJD8 · 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