ZC3H8

Chr 2

zinc finger CCCH-type containing 8

Also known as: Fliz1, ZC3HDC8

NCBI Gene: 84524ENSG00000144161UniProt: Q8N5P1OMIM: 621273

Enables RNA binding activity. Involved in several processes, including positive regulation of thymocyte apoptotic process; regulation of DNA-templated transcription; and snRNA transcription. Located in Cajal body; euchromatin; and histone locus body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating 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
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.257
Z-score 2.83
OE 0.24 (0.12–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.39Z-score
OE missense 0.66 (0.56–0.79)
88 obs / 133.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.24 (0.12–0.56)
0≤0.351.4
Missense OE?0.66 (0.56–0.79)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 4 / 16.4Missense obs/exp: 88 / 133.0Syn Z: 0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZC3H8 · 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