5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription 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
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.
1
ZNF431 is a KRAB domain zinc finger transcription factor that represses PTCH1 expression through HDAC1/2 recruitment and directly regulates hedgehog signaling
PMID: 211775342
Autosomal recessive ZNF431 mutations cause a hyper IgE syndrome variant with atopic dermatitis, recurrent infections, and elevated IgE
PMID: 302644963
ZNF431 is a recessive locus associated with non-syndromic cleft lip and/or palate in consanguineous families
PMID: 227505664
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.
mental or behavioural disorderOpen Targets
Familial prostate cancerOpen Targets
prostate cancerOpen Targets
diabetes mellitusOpen Targets
esophageal squamous cell carcinomaOpen Targets
oligodendrogliomaOpen Targets
medulloblastomaOpen Targets
primitive neuroectodermal tumorOpen Targets
hyperinsulinemic hypoglycemia, familial, 4Open Targets
colorectal cancerOpen Targets
kidney oncocytomaOpen Targets
aldosterone-producing adenomaOpen Targets
chromophobe renal cell carcinomaOpen Targets
breast neoplasmOpen Targets
Huntington diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.