ZC3H6

Chr 2

zinc finger CCCH-type containing 6

Also known as: ZC3HDC6

NCBI Gene: 376940ENSG00000188177UniProt: P61129

Predicted to enable RNA binding activity and zinc ion binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.192
Z-score 4.56
OE 0.24 (0.15–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.47Z-score
OE missense 0.83 (0.77–0.89)
482 obs / 582.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.24 (0.15–0.41)
0≤0.351.4
Missense OE?0.83 (0.77–0.89)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 10 / 41.8Missense obs/exp: 482 / 582.0Syn Z: -0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZC3H6 · 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