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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZNF431
zinc finger protein 431
Chromosome 19 · 19p12
NCBI Gene: 170959Ensembl: ENSG00000196705.9HGNC: HGNC:20809UniProt: Q8TF32
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificchromatin bindingnegative regulation of transcription by RNA polymerase IImental or behavioural disorderFamilial prostate cancerprostate cancerdiabetes mellitus
✦AI Summary

ZNF431 is a KRAB domain-containing zinc finger transcription factor that functions as a sequence-specific DNA-binding transcriptional repressor 1. The protein represses target gene transcription by recruiting histone deacetylases HDAC1 and HDAC2 to chr19 1, binding to consensus sequences in gene promoters to inhibit RNA polymerase II-dependent transcription. ZNF431 directly represses Patched1 (PTCH1) transcription through three identified binding sites in its promoter, thereby regulating sonic hedgehog signaling 1. ZNF431 is required for osteoblast differentiation and proper hedgehog pathway response during embryonic development. Clinically, ZNF431 is implicated in primary immunodeficiency disorders. Autosomal recessive mutations in ZNF431 cause a hyper IgE syndrome variant characterized by atopic dermatitis, recurrent skin and lung infections, and elevated immunoglobulin E levels 2. Additionally, ZNF431 has been identified as a recessive locus associated with non-syndromic cleft lip and/or palate in consanguineous families, though functional mechanisms remain unclear 3. ZNF431 was also identified as a potential gene related to tumor-infiltrating plasma cells in lung adenocarcinoma and may have implications in cancer prognosis 4.

Sources cited
1
ZNF431 is a KRAB domain zinc finger transcription factor that represses PTCH1 expression through HDAC1/2 recruitment and directly regulates hedgehog signaling
PMID: 21177534
2
Autosomal recessive ZNF431 mutations cause a hyper IgE syndrome variant with atopic dermatitis, recurrent infections, and elevated IgE
PMID: 30264496
3
ZNF431 is a recessive locus associated with non-syndromic cleft lip and/or palate in consanguineous families
PMID: 22750566
4
ZNF431 is identified as a plasma cell-related hub gene with potential prognostic significance in lung adenocarcinoma
PMID: 37814076
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
mental or behavioural disorderOpen Targets
0.16Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.10Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
primitive neuroectodermal tumorOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
Pick diseaseOpen Targets
0.00Suggestive
kidney oncocytomaOpen Targets
0.00Suggestive
spina bifidaOpen Targets
0.00Suggestive
aldosterone-producing adenomaOpen Targets
0.00Suggestive
chromophobe renal cell carcinomaOpen Targets
0.00Suggestive
sarcoidosisOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF766Protein interaction78%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
71%
Lung
35%
Heart
27%
Brain
17%
Liver
6%
Gene Interaction Network
Click a node to explore
ZNF431ZNF766
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TF32
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.47–0.83]
RankingsWhere ZNF431 stands among ~20K protein-coding genes
  • #15,756of 20,598
    Most Researched15
  • #7,130of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedZNF431
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Hyper IgE syndromes: clinical and molecular characteristics.
PMID: 30264496
Immunol Cell Biol · 2019
1.00
2
Plasma cell signatures predict prognosis and treatment efficacy for lung adenocarcinoma.
PMID: 37814076
Cell Oncol (Dordr) · 2024
0.80
3
A novel KRAB domain-containing zinc finger transcription factor ZNF431 directly represses Patched1 transcription.
PMID: 21177534
J Biol Chem · 2011
0.60
4
GWAS reveals new recessive loci associated with non-syndromic facial clefting.
PMID: 22750566
Eur J Med Genet · 2012
0.40
5
lncRNA CDKN2B-AS1 is downregulated in patients with ventricular fibrillation in acute myocardial infarction.
PMID: 38771854
PLoS One · 2024
0.20