ZNF239

Chr 10

zinc finger protein 239

Also known as: HOK-2, MOK2

NCBI Gene: 8187ENSG00000196793UniProt: Q16600

MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.26
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?
1.26LOEUF
pLI 0.000
Z-score 0.80
OE 0.78 (0.50–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.18Z-score
OE missense 0.97 (0.87–1.08)
231 obs / 238.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.50–1.26)
0≤0.351.4
Missense OE?0.97 (0.87–1.08)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 12 / 15.4Missense obs/exp: 231 / 238.8Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF239 · 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