ZNF33B

Chr 10

zinc finger protein 33B

Also known as: KOX2, KOX31, ZNF11B

NCBI Gene: 7582ENSG00000196693UniProt: Q06732

This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
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?
0.78LOEUF
pLI 0.000
Z-score 2.46
OE 0.50 (0.33–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.22Z-score
OE missense 1.03 (0.95–1.12)
401 obs / 388.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.50 (0.33–0.78)
0≤0.351.4
Missense OE?1.03 (0.95–1.12)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 14 / 28.0Missense obs/exp: 401 / 388.7Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF33B · 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