ZNF519

Chr 18

zinc finger protein 519

Also known as: HsT2362

NCBI Gene: 162655ENSG00000175322UniProt: Q8TB69

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.008
Z-score 0.14
OE 0.92 (0.40–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.78Z-score
OE missense 1.13 (1.03–1.25)
302 obs / 266.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.92 (0.40–1.83)
0≤0.351.4
Missense OE?1.13 (1.03–1.25)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 3 / 3.3Missense obs/exp: 302 / 266.2Syn Z: 1.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF519 · 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