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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNF430
zinc finger protein 430
Chromosome 19 · 19p12
NCBI Gene: 80264Ensembl: ENSG00000118620.14HGNC: HGNC:20808UniProt: A8K360
15PubMed Papers
17Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
substantia nigra developmentnucleusDNA-binding transcription factor activity, RNA polymerase II-specificregulation of DNA-templated transcriptionnutritional deficiency diseaseautismseptic shockInvasive Breast Carcinoma
✦AI Summary

ZNF430 is a zinc finger transcription factor located on chromosome 19 that functions as a DNA-binding protein with RNA polymerase II-specific regulatory activity 1. The gene encodes a transcriptional regulator involved in nucleus-localized, DNA-templated transcription control through sequence-specific binding to cis-regulatory regions. Mechanistically, ZNF430 emerged during simian evolution to specifically silence THE1B retrotransposon elements in the primate genome 1. Contact residue changes in its zinc finger domain confer preferential repression of THE1B over THE1A subfamilies, with the protein binding to intact ZNF430 recognition sites within these elements 1. This anti-viral function prevents THE1B-mediated upregulation of corticotropin-releasing hormone, suggesting ZNF430 suppresses this retrovirus's activity in most tissues including placenta 1. Clinically, ZNF430 has been identified as significantly mutated in mucosal melanoma patients in genomic studies 2, though the functional consequences of these mutations remain unclear. The evolutionary arms race between ZNF430/ZNF100 and THE1 retrotransposons illustrates the gene's role in genome defense against transposable elements, with implications for understanding human health and disease mechanisms 3.

Sources cited
1
ZNF430 emerged during simian evolution to specifically silence THE1B retrotransposon elements and contains zinc finger domains that preferentially repress THE1B family
PMID: 37217947
2
ZNF430 is implicated in an evolutionary arms race model with THE1B/THE1A retrotransposons with implications for gene regulation and human health
PMID: 38131004
3
ZNF430 was identified as a significantly mutated gene in mucosal melanoma patients
PMID: 33189033
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ17
nutritional deficiency diseaseOpen Targets
0.29Weak
autismOpen Targets
0.01Suggestive
septic shockOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
bone metastasisOpen Targets
0.00Suggestive
eosinophilic esophagitisOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
spina bifidaOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
pulmonary arterial hypertensionOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CKBShared pathway100%NDRG2Shared pathway100%GNB4Shared pathway100%SYPL2Shared pathway100%ZNF100Co-mentioned in literature67%YWHAQShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
30%
Brain
24%
Heart
17%
Lung
17%
Liver
4%
Gene Interaction Network
Click a node to explore
ZNF430CKBNDRG2GNB4SYPL2ZNF100YWHAQ
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2NKJ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.46–0.82]
RankingsWhere ZNF430 stands among ~20K protein-coding genes
  • #15,755of 20,598
    Most Researched15
  • #6,989of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedZNF430
Sources retrieved3 papers
Response time—
📄 Sources
3
1
The successive emergence of ERVL-MaLRs in primates.
PMID: 38131004
Virus Evol · 2023
1.00
2
THE1B may have no role in human pregnancy due to ZNF430-mediated silencing.
PMID: 37217947
Mob DNA · 2023
0.67
3
Identification of vital genes and pathways associated with mucosal melanoma in Chinese.
PMID: 33189033
Ann Diagn Pathol · 2021
0.33