JMJD8

Chr 16

jumonji domain containing 8

Also known as: C16orf20, PP14397

NCBI Gene: 339123ENSG00000161999UniProt: Q96S16

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; positive regulation of sprouting angiogenesis; and regulation of pyruvate kinase activity. Located in endoplasmic reticulum lumen and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score -0.95
OE 1.27 (0.88–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.92Z-score
OE missense 1.43 (1.28–1.60)
224 obs / 156.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.27 (0.88–1.81)
0≤0.351.4
Missense OE?1.43 (1.28–1.60)
0≤0.61.4
Synonymous OE?1.55
0≤1.21.6
LoF obs/exp: 18 / 14.1Missense obs/exp: 224 / 156.3Syn Z: -3.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients