ZNF500

Chr 16

zinc finger protein 500

Also known as: ZKSCAN18, ZSCAN50

NCBI Gene: 26048ENSG00000103199UniProt: O60304

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.73
OE 0.57 (0.36–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.67Z-score
OE missense 1.26 (1.16–1.37)
397 obs / 313.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.57 (0.36–0.95)
0≤0.351.4
Missense OE?1.26 (1.16–1.37)
0≤0.61.4
Synonymous OE?1.40
0≤1.21.6
LoF obs/exp: 11 / 19.2Missense obs/exp: 397 / 313.9Syn Z: -3.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF500 · 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