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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZCWPW1
zinc finger CW-type and PWWP domain containing 1
Chromosome 7 · 7q22.1
NCBI Gene: 55063Ensembl: ENSG00000078487.18HGNC: HGNC:23486UniProt: A0A804HK41
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
epigenetic regulation of gene expressionnucleushistone H3K4me3 reader activitypositive regulation of DNA recombinationazoospermiapartial chromosome Y deletionspermatogenic failure 57spermatogenic failure 25
✦AI Summary

ZCWPW1 (zinc finger CW-type and PWWP domain containing 1) functions as a dual histone methylation reader specific for PRDM9-catalyzed marks H3K4me3 and H3K36me3 12. The protein facilitates repair of PRDM9-induced meiotic double-strand breaks and shows tight evolutionary coevolution with PRDM9 across vertebrates, suggesting a key role in recombination machinery recruitment or DNA repair 3. ZCWPW1 is essential for male fertility and spermatogenesis, required for meiosis prophase I progression specifically in male germ cells. Clinically, ZCWPW1 variants cause male infertility. A homozygous missense mutation (c.1064C>T, p.P355L) was identified in an infertile patient with oligoasthenoteratozoospermia, characterized by sperm head defects and elevated DNA fragmentation 4. Mutations in ZCWPW1 are classified among genes causing amorphous sperm head morphology 5. Addditionally, ZCWPW1 variants associate with late-onset Alzheimer's disease (LOAD) risk. The rs1476679 polymorphism significantly associates with LOAD in Han Chinese populations and meta-analyses of 82,525 individuals, with the C allele conferring protective effects 6. However, within the ZCWPW1 locus, neighboring genes PILRB and GATS show stronger eQTL associations with AD status and elevated expression in microglia, suggesting complex locus architecture 7.

Sources cited
1
ZCWPW1 is a dual histone methylation reader for H3K4me3 and H3K36me3
PMID: 20826339
2
ZCWPW1 reads PRDM9-catalyzed histone marks H3K4me3 and H3K36me3
PMID: 32744506
3
ZCWPW1 coevolved tightly with PRDM9 across vertebrates and facilitates double-strand break repair
PMID: 35217607
4
Homozygous ZCWPW1 missense mutation causes male infertility with sperm head defects and high DNA fragmentation
PMID: 38310235
5
ZCWPW1 mutations cause amorphous sperm head morphology
PMID: 39417902
6
rs1476679 polymorphism in ZCWPW1 is associated with reduced late-onset Alzheimer's disease risk
PMID: 26958812
7
ZCWPW1 locus contains eQTLs for PILRB and GATS genes associated with Alzheimer's disease; these genes are highly expressed in microglia
PMID: 26919393
Disease Associationsⓘ20
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
isochromosomy YqOpen Targets
0.07Suggestive
spinocerebellar ataxia type 32Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
spermatogenic failure 59Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
spermatogenic failure 74Open Targets
0.06Suggestive
ring chromosome YOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TTKProtein interaction99%CD2APProtein interaction97%ASPMProtein interaction97%PICALMProtein interaction84%SORL1Protein interaction80%ABCA7Protein interaction80%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
93%
Liver
85%
Heart
64%
Brain
57%
Lung
47%
Gene Interaction Network
Click a node to explore
ZCWPW1TTKCD2APASPMPICALMSORL1ABCA7
PROTEIN STRUCTURE
Preparing viewer…
PDB2E61 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.52–0.81]
RankingsWhere ZCWPW1 stands among ~20K protein-coding genes
  • #13,576of 20,598
    Most Researched23
  • #6,866of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedZCWPW1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Alzheimer's disease risk genes and mechanisms of disease pathogenesis.
PMID: 24951455
Biol Psychiatry · 2015
1.00
2
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
0.90
3
A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation.
PMID: 38310235
Reprod Health · 2024
0.80
4
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
PMID: 36411364
Nat Genet · 2022
0.70
5
Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.
PMID: 26919393
PLoS One · 2016
0.60