ZNF318

Chr 6

zinc finger protein 318

Also known as: HRIHFB2436, TZF, ZFP318

NCBI Gene: 24149ENSG00000171467UniProt: Q5VUA4

Predicted to enable protein heterodimerization activity and protein homodimerization activity. Predicted to be involved in negative regulation of DNA-templated transcription and positive regulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.34
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.34LOEUF
pLI 0.374
Z-score 6.21
OE 0.23 (0.15–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.20Z-score
OE missense 0.98 (0.94–1.03)
1139 obs / 1158.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.23 (0.15–0.34)
0≤0.351.4
Missense OE?0.98 (0.94–1.03)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 17 / 75.1Missense obs/exp: 1139 / 1158.4Syn Z: -1.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF318 · 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