ZNF232

Chr 17

zinc finger protein 232

Also known as: ZSCAN11

NCBI Gene: 7775 ENSG00000167840 UniProt: Q9UNY5 OMIM: 616463

This protein functions as a DNA-binding transcription factor that regulates gene expression by RNA polymerase II. Mutations in ZNF232 have not been definitively associated with human disease, and the gene shows low constraint against loss-of-function variants. No established inheritance pattern or clinical phenotype has been reported for this gene.

OMIM ResearchSummary from RefSeq, UniProt

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, Jul 2025]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 0.93

Clinical Summary— ZNF232

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.93LOEUF

pLI 0.000

Z-score 1.79

OE 0.55 (0.34–0.93)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.27Z-score

OE missense 0.95 (0.85–1.06)

226 obs / 237.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.55 (0.34–0.93)

0≤0.351.4

Missense OE?0.95 (0.85–1.06)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 10 / 18.2Missense obs/exp: 226 / 237.7Syn Z: -0.28

This gene — mechanism propensity

0.77top 25%

GOF

0.7029th %ile

LOF

0.2777th %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.