ZFP41

Chr 8

ZFP41 zinc finger protein

Also known as: ZNF753, zfp-41

NCBI Gene: 286128 ENSG00000181638 UniProt: Q8N8Y5 OMIM: 619942

ZFP41 encodes a DNA-binding transcriptional regulator that is involved in meiosis during spermatogenesis. The gene shows low constraint against loss-of-function variants (pLI 0.0004, LOEUF 1.82), and no definitive disease associations have been established in humans. Currently, there is insufficient evidence to support ZFP41 as a cause of pediatric neurological disorders.

OMIM ResearchSummary from RefSeq, UniProt

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.82

Clinical Summary— ZFP41

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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?

1.82LOEUF

pLI 0.000

Z-score -0.06

OE 1.03 (0.53–1.82)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.26Z-score

OE missense 1.07 (0.93–1.23)

134 obs / 125.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.03 (0.53–1.82)

0≤0.351.4

Missense OE?1.07 (0.93–1.23)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 5 / 4.9Missense obs/exp: 134 / 125.8Syn Z: -0.40

This gene — mechanism propensity

0.76top 25%

GOF

0.6346th %ile

LOF

0.4135th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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.