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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZNF100
zinc finger protein 100
Chromosome 19 · 19p12
NCBI Gene: 163227Ensembl: ENSG00000197020.13HGNC: HGNC:12880UniProt: Q8IYN0
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of DNA-templated transcriptionneurodegenerative diseasehypertensioncoronary artery diseaseresponse to xenobiotic stimulus
✦AI Summary

ZNF100 is a zinc finger protein that functions as a DNA-binding transcription factor with RNA polymerase II specificity 1. The protein acts as a sequence-specific repressor of THE1A retrotransposons, having evolved during the simian lineage to specifically silence this retrovirus family through contact residue changes in its zinc finger domain that confer preferential binding to THE1A elements 1. ZNF100 demonstrates involvement in disease pathogenesis across multiple contexts. It was identified as a potential drug target in primary aldosteronism through integrated bioinformatics analysis of transcriptome-wide association studies and Mendelian randomization 2. Expression variation of ZNF100 has been associated with ovarian cancer patient outcomes, with regulatory elements interacting with its promoter region showing correlation with candidate outcome variants at the 19p12 locus 3. Additionally, genetic variants within ZNF100-like regions on chromosome 19 were identified as significantly associated with pancreatic cancer susceptibility in Jewish populations 4. A long non-coding RNA transcript designated ZNF100-6:2 shows promise as a diagnostic biomarker for active pulmonary tuberculosis, with high diagnostic accuracy (ROC AUC = 0.9796) and downregulation in affected patients 5. ZNF100 represents a primate-specific zinc finger gene with both regulatory and disease-relevant functions.

Sources cited
1
ZNF100 emerged during simian lineage evolution to specifically silence THE1A retrotransposons through zinc finger-mediated DNA binding and transcriptional repression
PMID: 37217947
2
ZNF100 identified as one of seven potential drug targets for primary aldosteronism through integrated bioinformatics and Mendelian randomization analyses
PMID: 39799159
3
ZNF100 expression is associated with ovarian cancer progression-free and overall survival, with chromatin interaction evidence supporting its role as target of regulatory variants at 19p12 locus
PMID: 29029385
4
Genetic variants in ZNF100-like regions on chromosome 19p12 show genome-wide significant association with pancreatic cancer susceptibility in Jewish populations
PMID: 32671597
5
Long non-coding RNA ZNF100-6:2 is downregulated in active pulmonary tuberculosis and shows high diagnostic potential with ROC AUC of 0.9796
PMID: 38475909
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
hypertensionOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
lacrimal apparatus diseaseOpen Targets
0.03Suggestive
synovium disorderOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.01Suggestive
hyperaldosteronismOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
ovarian serous adenocarcinomaOpen Targets
0.01Suggestive
pulmonary tuberculosisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Townes-Brocks syndromeOpen Targets
0.00Suggestive
relapsing-remitting multiple sclerosisOpen Targets
0.00Suggestive
gastrointestinal stromal tumorOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF430Co-mentioned in literature67%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
48%
Brain
38%
Heart
32%
Lung
31%
Liver
17%
Gene Interaction Network
Click a node to explore
ZNF100ZNF430
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYN0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.57–1.32]
RankingsWhere ZNF100 stands among ~20K protein-coding genes
  • #15,173of 20,598
    Most Researched17
  • #13,879of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedZNF100
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Integrative bioinformatics approach identifies novel drug targets for hyperaldosteronism, with a focus on SHMT1 as a promising therapeutic candidate.
PMID: 39799159
Sci Rep · 2025
1.00
2
The successive emergence of ERVL-MaLRs in primates.
PMID: 38131004
Virus Evol · 2023
0.86
3
THE1B may have no role in human pregnancy due to ZNF430-mediated silencing.
PMID: 37217947
Mob DNA · 2023
0.71
4
A comparative genomic database of skeletogenesis genes: from fish to mammals.
PMID: 33676152
Comp Biochem Physiol Part D Genomics Proteomics · 2021
0.57
5
Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.
PMID: 29029385
Oncotarget · 2017
0.43