ZNF526

Chr 19AR

zinc finger protein 526

Also known as: DENNED

NCBI Gene: 116115ENSG00000167625UniProt: Q8TF50OMIM: 614387

ZNF526 encodes a probable transcription factor that binds DNA and zinc ions in the nucleus. Mutations cause Dentici-Novelli neurodevelopmental syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.47), indicating that complete loss of function is likely pathogenic.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.471 OMIM phenotype
Clinical Summary— ZNF526
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.52) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.523
Z-score 3.24
OE 0.21 (0.10–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.45Z-score
OE missense 0.94 (0.86–1.02)
395 obs / 421.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.21 (0.10–0.47)
0≤0.351.4
Missense OE0.94 (0.86–1.02)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 4 / 19.4Missense obs/exp: 395 / 421.2Syn Z: 0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF526 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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