ZFP64

Chr 20

ZFP64 zinc finger protein

Also known as: ZNF338

NCBI Gene: 55734ENSG00000020256UniProt: Q9NTW7

This protein is a zinc finger transcription factor that binds DNA and may regulate mesenchymal cell differentiation through transactivation of NOTCH1 target genes. The gene is highly constrained against loss-of-function variants (pLI 0.0002, LOEUF 0.758), but no definitive human disease associations have been established in the current datasets.

Summary from RefSeq, UniProt
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0
Active trials
7
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.76
LOEUF
—
Mechanism
Clinical Summary— ZFP64
⚡
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
0.76LOEUF
pLI 0.000
Z-score 2.42
OE 0.45 (0.28–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.94Z-score
OE missense 0.74 (0.67–0.81)
315 obs / 428.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.28–0.76)
0≤0.351.4
Missense OE0.74 (0.67–0.81)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 10 / 22.4Missense obs/exp: 315 / 428.0Syn Z: -0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZFP64 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Clinicopathologic and Molecular Genetic Features of Spindle Cell Rhabdomyosarcoma Harboring ZFP64::NCOA2/3 Fusions: A Series of 14 Cases.
Dehner CA et al.·Mod Pathol
2025Cohort
The transcription factor ZFP64 promotes activity-dependent synapse elimination during postnatal cerebellar development.
Zhang J et al.·iScience
2025Open Access
Investigate the Effect of ZFP64 on mRNA Expression of HBG Based on Bioinformatics and Experimental Validation.
Huang S et al.·Cell Biochem Biophys
2025
Cancer-associated fibroblasts promote doxorubicin resistance in triple-negative breast cancer through enhancing ZFP64 histone lactylation to regulate ferroptosis.
Zhang K et al.·J Transl Med
2025Open Access
LncRNA FIRRE drives gastric cancer progression via ZFP64-mediated TUBB3 promoter activation.
Yuan J et al.·Cancer Lett
2024
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