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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZNF483
zinc finger protein 483
Chromosome 9 · 9q31.3
NCBI Gene: 158399Ensembl: ENSG00000173258.13HGNC: HGNC:23384UniProt: Q6P088
23PubMed 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-specificregulation of transcription by RNA polymerase IInucleusneurodegenerative diseaseAbnormality of the skeletal systemnervous system diseaseprimary ovarian insufficiency
✦AI Summary

ZNF483 (zinc finger protein 483) is a transcription factor that plays important roles in reproductive development and cellular regulation. The protein functions as a DNA-binding transcription factor with RNA polymerase II-specific activity, localizing to the nucleus where it regulates transcription 1. In reproductive biology, ZNF483 genetic variants are associated with pubertal timing, particularly age at thelarche and menarche, with rare loss-of-function variants capable of abolishing polygenic risk effects on pubertal development 231. Beyond reproductive function, ZNF483 acts as part of the TRIM28/KRAB-ZNF regulatory network that maintains pluripotency in human stem cells by epigenetically repressing pro-differentiation genes through H3K9me3 histone modifications and DNA methylation 4. The gene shows clinical significance across multiple diseases: it has been identified as a potential autism spectrum disorder risk gene in Chinese populations 5, exhibits altered expression in response to extracorporeal shock wave therapy in horses 6, serves as a prognostic marker in prostate cancer 7, and shows relapse-specific alterations in B-cell precursor acute lymphoblastic leukemia 8. These diverse associations suggest ZNF483 functions as a broad transcriptional regulator with particular importance in developmental timing and disease pathogenesis.

Sources cited
1
ZNF483 genetic variants are associated with age at thelarche and menarche in healthy girls
PMID: 29077908
2
Rare loss-of-function variants in ZNF483 can abolish polygenic risk effects on pubertal development
PMID: 38951643
3
ZNF483 variants identified in multi-ancestry genetic analyses of pubertal timing
PMID: 37503126
4
ZNF483 functions as part of TRIM28/KRAB-ZNF network maintaining pluripotency through epigenetic repression
PMID: 29198826
5
ZNF483 identified as potential autism spectrum disorder risk gene in Chinese population
PMID: 39126614
6
ZNF483 expression is down-regulated in white blood cells following extracorporeal shock wave therapy
PMID: 34008346
7
ZNF483 has predictive potential as a prognostic marker in prostate cancer
PMID: 37298233
8
ZNF483 shows relapse-specific alterations in B-cell precursor acute lymphoblastic leukemia
PMID: 30862934
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
Abnormality of the skeletal systemOpen Targets
0.37Weak
nervous system diseaseOpen Targets
0.12Weak
primary ovarian insufficiencyOpen Targets
0.12Weak
infectious diseaseOpen Targets
0.03Suggestive
macular degenerationOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.03Suggestive
amyloidosisOpen Targets
0.02Suggestive
HepatitisOpen Targets
0.02Suggestive
Hodgkins lymphomaOpen Targets
0.02Suggestive
Pancreatic pseudocystOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
endometrial carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Pallister-Hall syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF446Protein interaction80%ZKSCAN4Protein interaction78%GPR83Co-mentioned in literature20%
Tissue Expression6 tissues
Brain
100%
Ovary
35%
Bone Marrow
20%
Heart
16%
Liver
9%
Lung
7%
Gene Interaction Network
Click a node to explore
ZNF483ZNF446ZKSCAN4GPR83
PROTEIN STRUCTURE
Preparing viewer…
PDB2CTU · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.27 [0.15–0.52]
RankingsWhere ZNF483 stands among ~20K protein-coding genes
  • #13,591of 20,598
    Most Researched23
  • #3,163of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedZNF483
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
PMID: 38951643
Nat Genet · 2024
1.00
2
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
PMID: 37503126
medRxiv · 2023
0.90
3
Whole-genome sequencing identifies novel genes for autism in Chinese trios.
PMID: 39126614
Sci China Life Sci · 2024
0.80
4
Differential Impact of Genetic Loci on Age at Thelarche and Menarche in Healthy Girls.
PMID: 29077908
J Clin Endocrinol Metab · 2018
0.70
5
Gene transcripts expressed in equine white blood cells are potential biomarkers of extracorporeal shock wave therapy.
PMID: 34008346
Drug Test Anal · 2022
0.60