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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ZFY
zinc finger protein Y-linked
Chromosome Y Β· Yp11.2
NCBI Gene: 7544Ensembl: ENSG00000067646.13HGNC: HGNC:12870UniProt: P08048
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuschromatinDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaseneuroinflammatory disorderataxia telangiectasiaazoospermia
✦AI Summary

ZFY is a Y-linked zinc finger transcription factor that serves as a sequence-specific DNA-binding protein recognizing the consensus sequence 5'-AGGCCY-3' 1. As a probable transcriptional activator, ZFY functions in positive regulation of transcription through RNA polymerase II, binding to chrY and cis-regulatory regions [UniProt GO annotations]. ZFY plays a key role in sex chrY-mediated regulation of autosomal gene expression; recent studies demonstrate that ZFY, along with its homologous X-linked counterpart ZFX, modulates approximately 21% of all genes expressed in lymphoblastoid cells and fibroblasts, with Y chromosome Y on autosomal expression remarkably similar to those of the inactive X chrY 23. Clinically, ZFY expression is altered in prostate adenocarcinoma, where ZFY transcripts were detected in 20 of 31 tumors by RT-PCR but absent in normal prostate tissue, suggesting potential involvement in malignant development 4. Historically, ZFY was investigated as a candidate for the testis-determining factor, though evidence now indicates ZFY and the true sex-determining locus (TDF) are distinct genetic entities 51. ZFY's precise molecular targets and complete functional role in sex determination remain incompletely characterized.

Sources cited
1
ZFY and ZFX are homologous transcription factors that modulate autosomal gene expression; 21% of genes in lymphoblastoid cells and fibroblasts respond to Y chromosome presence
PMID: 38190107
2
Confirms that ZFY and ZFX produce similar effects on autosomal expression through sex chromosome-shared mechanisms
PMID: 37333288
3
ZFY transcripts expressed in prostate adenocarcinoma (20/31 tumors by RT-PCR) but absent in normal prostate tissue
PMID: 7680890
4
ZFY was initially considered candidate for testis-determining factor but is now known to be distinct from TDF
PMID: 2068784
5
ZFY encodes a zinc-finger protein in the sex-determining region; closely related ZFX gene exists on X chromosome
PMID: 2907799
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.51Moderate
neuroinflammatory disorderOpen Targets
0.22Weak
ataxia telangiectasiaOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.06Suggestive
spermatogenic failure 8Open Targets
0.05Suggestive
familial primary pulmonary hypoplasiaOpen Targets
0.05Suggestive
spermatogenic failure 12Open Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.05Suggestive
spermatogenic failure 51Open Targets
0.05Suggestive
spermatogenic failure 54Open Targets
0.05Suggestive
spermatogenic failure 84Open Targets
0.04Suggestive
spermatogenic failure 93Open Targets
0.04Suggestive
spermatogenic failure 65Open Targets
0.04Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.04Suggestive
spermatogenic failure 56Open Targets
0.04Suggestive
spermatogenic failure 92Open Targets
0.04Suggestive
spermatogenic failure 94Open Targets
0.04Suggestive
spermatogenic failure 39Open Targets
0.04Suggestive
spermatogenic failure 40Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
USP9YProtein interaction100%SRYProtein interaction99%DDX3YProtein interaction97%KDM5DProtein interaction97%EIF1AYProtein interaction97%UTYProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
34%
Lung
18%
Ovary
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ZFYUSP9YSRYDDX3YKDM5DEIF1AYUTY
PROTEIN STRUCTURE
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PDB1KLR Β· NMR
View on RCSB β†—
RankingsWhere ZFY stands among ~20K protein-coding genes
  • #12,487of 20,598
    Most Researched28
Genes detectedZFY
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
PMID: 28712537
Lancet Β· 2017
1.00
2
The myth of Eve: molecular biology and human origins.
PMID: 8533083
Science Β· 1995
0.90
3
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
PMID: 38190107
Cell Genom Β· 2024
0.80
4
The ZFY gene family in humans and mice.
PMID: 2068784
Trends Genet Β· 1991
0.70
5
SENP5 promotes homologous recombination-mediated DNA damage repair in colorectal cancer cells through H2AZ deSUMOylation.
PMID: 37684630
J Exp Clin Cancer Res Β· 2023
0.60