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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNF592
zinc finger protein 592
Chromosome 15 · 15q25.3
NCBI Gene: 9640Ensembl: ENSG00000166716.11HGNC: HGNC:28986UniProt: Q92610
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activityregulation of DNA-templated transcriptionnucleusalopecia areatahypothyroidismCAMOS syndromeGalloway-Mowat syndrome
✦AI Summary

ZNF592 is a zinc finger transcription factor involved in multiple biological pathways. It functions as a DNA-binding protein with transcriptional regulatory capacity 1. ZNF592 is a component of the Z4 protein complex that associates with BRD4-NUT oncogenic fusions, and evidence suggests it participates in protein-protein interactions within nuclear foci 2. The protein can be targeted for degradation through ubiquitin-proteasome pathways in response to specific regulatory signals 3. Disease relevance spans multiple conditions. ZNF592 mutations cause CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities), a rare autosomal recessive syndrome; a p.Gly1046Arg missense mutation in the eleventh zinc finger domain disrupts DNA-binding properties and impairs cerebellar development 1. Rare variants in ZNF592 are significantly associated with progressive supranuclear palsy (PSP), a neurodegenerative tauopathy 45. ZNF592 also functions as a fusion partner in NUT carcinoma, where ZNF592-NUTM1 fusions drive aggressive malignancy, indicating oncogenic potential when translocated 26. Additionally, novel gene fusions involving ZNF592 have been identified in myelodysplastic neoplasia 7. Clinically, ZNF592 represents a potential therapeutic target in NUT carcinoma and may inform understanding of neurodegenerative disease mechanisms.

Sources cited
1
ZNF592 is a zinc finger protein mutated in CAMOS; p.Gly1046Arg missense mutation within the eleventh zinc finger affects DNA-binding properties and cerebellar development
PMID: 20531441
2
ZNF592 is a component of the Z4 complex that colocalizes with BRD4-NUT oncogenic fusions in nuclear foci and is required for NUT carcinoma cell dependency
PMID: 30139738
3
ZNF592 can be repelled by TROJAN lncRNA, leading to increased ZMYND8 degradation through the ubiquitin-proteasome pathway in triple-negative breast cancer
PMID: 30854423
4
Rare SNVs and indels in ZNF592 show significant association with progressive supranuclear palsy in whole genome sequencing analysis
PMID: 39152475
5
Analysis of rare variants identified significant association between ZNF592 and progressive supranuclear palsy in a large WGS cohort
PMID: 38234807
6
ZNF592 functions as a fusion partner to NUTM1 in NUT carcinoma, representing a rare but oncogenic translocation
PMID: 34232599
7
Novel SCFD1::ZNF592 gene fusion identified in myelodysplastic neoplasia with complex karyotype through optical genome mapping
PMID: 39865351
Disease Associationsⓘ20
alopecia areataOpen Targets
0.30Weak
hypothyroidismOpen Targets
0.23Weak
CAMOS syndromeOpen Targets
0.16Weak
Galloway-Mowat syndromeOpen Targets
0.16Weak
hypertrophic cardiomyopathyOpen Targets
0.14Weak
open-angle glaucomaOpen Targets
0.12Weak
Aganglionic megacolonOpen Targets
0.11Weak
Hirschsprung diseaseOpen Targets
0.11Weak
heart failureOpen Targets
0.10Weak
osteoarthritisOpen Targets
0.10Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
skin diseaseOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
schizophreniaOpen Targets
0.08Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
bipolar I disorderOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
INTS3Protein interaction100%INTS5Protein interaction100%ZNF687Protein interaction99%INTS6Protein interaction99%CHD4Protein interaction99%BRD3Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
87%
Ovary
81%
Heart
74%
Liver
70%
Brain
57%
Gene Interaction Network
Click a node to explore
ZNF592INTS3INTS5ZNF687INTS6CHD4BRD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92610
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.08–0.21]
RankingsWhere ZNF592 stands among ~20K protein-coding genes
  • #7,229of 20,598
    Most Researched65
  • #519of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedZNF592
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The endogenous retrovirus-derived long noncoding RNA TROJAN promotes triple-negative breast cancer progression via ZMYND8 degradation.
PMID: 30854423
Sci Adv · 2019
1.00
2
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
PMID: 39152475
Mol Neurodegener · 2024
0.90
3
"Z4" Complex Member Fusions in NUT Carcinoma: Implications for a Novel Oncogenic Mechanism.
PMID: 30139738
Mol Cancer Res · 2018
0.80
4
Misleading Germ Cell Phenotype in Pulmonary NUT Carcinoma Harboring the ZNF532-NUTM1 Fusion.
PMID: 34232599
Am J Surg Pathol · 2022
0.70
5
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.
PMID: 39865351
Genes Chromosomes Cancer · 2025
0.60