ZNF572

Chr 8

zinc finger protein 572

NCBI Gene: 137209 ENSG00000180938 UniProt: Q7Z3I7

ZNF572 encodes a transcriptional regulator that enables protein binding and is predicted to negatively regulate RNA polymerase II transcription and immune system processes. The gene shows low constraint to loss-of-function variation (pLI 0.01, LOEUF 0.72), and currently no established disease associations have been reported in the medical literature. Clinical significance of variants in this gene remains to be determined.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

MultiplemechanismLOEUF 0.72

Clinical Summary— ZNF572

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

71 VUS of 80 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.72LOEUF

pLI 0.013

Z-score 2.39

OE 0.36 (0.20–0.72)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.32Z-score

OE missense 0.95 (0.85–1.05)

264 obs / 279.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.36 (0.20–0.72)

0≤0.351.4

Missense OE?0.95 (0.85–1.05)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 6 / 16.4Missense obs/exp: 264 / 279.1Syn Z: 0.04

This gene — mechanism propensity

0.81top 10%

GOF

0.6833th %ile

LOF

0.3261th %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

80 submitted variants in ClinVar

ClinVar

Classification Summary

VUS71

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	71	71
Likely Benign	3	3
Benign	0	0
Total	74	74

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

View in ClinVar →

54 pathogenic / likely-pathogenic (of 62) ClinVar copy-number / structural variants overlap ZNF572 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →