ZNF32

Chr 10

zinc finger protein 32

Also known as: KOX30, ZNF637, Zfp637

NCBI Gene: 7580ENSG00000169740UniProt: P17041

The ZNF32 protein binds to specific DNA sequences and is predicted to regulate gene transcription by RNA polymerase II in the nucleus. Currently, no established human diseases have been definitively linked to mutations in this gene. This gene appears tolerant to loss-of-function variants based on population genetics data.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
13
P/LP submissions
0%
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— ZNF32
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 30 VUS of 49 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.90LOEUF
pLI 0.033
Z-score 1.80
OE 0.39 (0.19–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.42Z-score
OE missense 0.67 (0.57–0.79)
99 obs / 147.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.39 (0.19–0.90)
0≤0.351.4
Missense OE0.67 (0.57–0.79)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 4 / 10.2Missense obs/exp: 99 / 147.6Syn Z: 0.78
DN
0.89top 5%
GOF
0.82top 10%
LOF
0.1993th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

49 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic2
VUS30
Benign1
11
Pathogenic
2
Likely Pathogenic
30
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
2
0
2
VUS
0
28
2
0
30
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total02816044

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZNF32 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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