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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNF18
zinc finger protein 18
Chromosome 17 · 17p12
NCBI Gene: 7566Ensembl: ENSG00000154957.14HGNC: HGNC:12969UniProt: B3KXT5
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingbreast carcinomavein disorderneurodegenerative diseaselymphatic system disease
✦AI Summary

ZNF18 is a zinc finger transcription factor containing five C2H2-type zinc finger motifs, a KRAB box, and a SCAN-box domain that functions as a DNA-binding transcription factor regulating RNA polymerase II-mediated gene expression 1. The protein demonstrates high sequence conservation across mammals (77-92% identity between human, mouse, and rat orthologs) 2. ZNF18 exhibits dynamic developmental expression, particularly abundant in embryonic heart tissue at E9.0-E10.5, suggesting roles in cardiac development 1. Recent structural studies reveal that ZNF18's five zinc finger domains specifically coordinate Zn2+ with high affinity (Kd ≤18 nM) and directly bind cis-acting promoter elements to regulate cell cycle genes (CDK1 via the cell cycle-dependent element CGCGG) and neuronal development genes (BRN2 and dopamine-related pathways) 3. Clinically, ZNF18 has been implicated in multiple diseases: it appears as a recessive mutation candidate in autism spectrum disorder associated with neuronal depolarization-regulated transcription 4, and is located within a frequently deleted chr17 region (17p13.1-p12) in esophageal squamous cell carcinomas, suggesting potential tumor suppressor function 5. Additionally, ZNF18 was identified as a prognostic biomarker for clear cell renal cell carcinoma survival outcomes 6.

Sources cited
1
ZNF18 contains SCAN-box, KRAB box, and five C2H2 zinc finger motifs; located on chromosome 17p12-p13; dynamically expressed during embryonic development with abundance in embryonic heart
PMID: 16120570
2
ZNF18 identified as zinc finger transcription factor; 77-92% amino acid identity among human, mouse, and rat orthologs; contains N-terminal leucine-rich region, KRAB box, and C-terminal zinc finger motifs
PMID: 15702252
3
ZNF18 zinc finger domains coordinate Zn2+ with high specificity (Kd ≤18 nM); binds cdk1 promoter via cell cycle-dependent element (CGCGG) and regulates neuronal development through BRN2 and dopamine pathways
PMID: 40823929
4
ZNF18 identified as candidate gene for recessive autism mutations; involved in neuronal pathways with depolarization-regulated transcription
PMID: 22511880
5
ZNF18 located in frequently deleted region 17p13.1-p12 in esophageal squamous cell carcinomas, suggesting potential tumor suppressor role
PMID: 11062163
6
ZNF18 identified as prognostic biomarker for clear cell renal cell carcinoma survival outcomes using regularized Cox models
PMID: 35954157
7
ZNF18 (KOX11) chromosomally localized to 17p13-p12 by in situ hybridization
PMID: 8262519
Disease Associationsⓘ20
breast carcinomaOpen Targets
0.26Weak
vein disorderOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.22Weak
lymphatic system diseaseOpen Targets
0.21Weak
Varicose veinsOpen Targets
0.20Weak
coronary atherosclerosisOpen Targets
0.16Weak
Inguinal herniaOpen Targets
0.14Weak
HerniaOpen Targets
0.12Weak
asthmaOpen Targets
0.11Weak
occlusion precerebral arteryOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.11Weak
Cerebral degenerationOpen Targets
0.09Suggestive
placenta praeviaOpen Targets
0.08Suggestive
pregnancy disorderOpen Targets
0.08Suggestive
eye injuryOpen Targets
0.08Suggestive
HematemesisOpen Targets
0.07Suggestive
inflammation of heart layerOpen Targets
0.07Suggestive
androgenetic alopeciaOpen Targets
0.05Suggestive
alopeciaOpen Targets
0.05Suggestive
nephrolithiasisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF24Protein interaction86%ZNF174Protein interaction80%SCAND1Protein interaction75%ZNF446Protein interaction73%UBE3BProtein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
79%
Heart
53%
Lung
47%
Ovary
46%
Brain
39%
Gene Interaction Network
Click a node to explore
ZNF18ZNF24ZNF174SCAND1ZNF446UBE3B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P17022
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.56–0.93]
RankingsWhere ZNF18 stands among ~20K protein-coding genes
  • #14,881of 20,598
    Most Researched18
  • #8,591of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedZNF18
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
[Molecular cloning and expression analysis of a novel human gene ZNF18].
PMID: 16120570
Yi Chuan · 2005
1.00
2
Kidney Cancer Biomarker Selection Using Regularized Survival Models.
PMID: 35954157
Cells · 2022
0.86
3
Identification and characterization of human ZNF18 gene in silico.
PMID: 15702252
Int J Mol Med · 2005
0.71
4
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
PMID: 22511880
PLoS Genet · 2012
0.57
5
High frequency allelic loss on chromosome 17p13.3-p11.1 in esophageal squamous cell carcinomas from a high incidence area in northern China.
PMID: 11062163
Carcinogenesis · 2000
0.43