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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DAZ4
deleted in azoospermia 4
Chromosome Y · Yq11.23
NCBI Gene: 57135Ensembl: ENSG00000205916.12HGNC: HGNC:15966UniProt: A0A804HKV4
35PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-containing complexcytoplasm3'-UTR-mediated mRNA stabilizationazoospermiapartial chromosome Y deletionspermatogenic failure 1spermatogenic failure 12
✦AI Summary

DAZ4 is an RNA-binding protein essential for spermatogenesis, functioning as a translation regulator by binding to the 3'-UTR of mRNAs to stabilize and activate their translation 1. DAZ4 exists as one of four paralogous copies (DAZ1-DAZ4) on the Y chrY's AZFc region, with functional redundancy among copies 2. Loss of DAZ4 alone through partial deletions shows variable effects on fertility: DAZ4 deletion in isolation is relatively frequent in both fertile and infertile men, though removing DAZ4 appears more common in oligospermic than normospermic men 1. However, simultaneous deletion of both DAZ2 and DAZ4 copies significantly associates with male infertility 1, suggesting synergistic effects. In contrast, DAZ1/DAZ2 deletions constitute higher risk factors for spermatogenic failure 34, while DAZ3/DAZ4 deletions alone have minimal fertility impact 24. Complete AZFc deletions removing all DAZ copies cause severe oligozoospermia or azoospermia 3. DAZ4 deletions are classified as spermatogenic failure Y-linked 2 when pathogenic. Clinical significance lies in genetic screening of infertile men, particularly identifying combined DAZ2/DAZ4 loss as a risk factor warranting counseling.

Sources cited
1
Combined deletion of DAZ2 and DAZ4 copies is significantly associated with male infertility; DAZ4 deletion alone is more frequent in oligospermic than normospermic men
PMID: 24878370
2
Complete DAZ gene deletion is a frequent genetic cause of severe oligozoospermia; DAZ1/DAZ2 deletion is a high-risk factor for the disease
PMID: 16963411
3
Removing DAZ1/DAZ2 is associated with spermatogenic impairment, whereas removing DAZ3/DAZ4 has little or no effect on fertility
PMID: 23512232
4
DAZ3/DAZ4 gene deletions are present in fertile men with no indication of reduced fertility, indicating genetic redundancy of the AZFc locus
PMID: 14639527
5
gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility
PMID: 27457284
6
DAZ1/DAZ2 deletions are associated with spermatogenesis impairment, while DAZ3/DAZ4 deletions have minimal effects
PMID: 26931020
7
Deletions of different DAZ genes contribute differently to spermatogenic failure; DAZ1/DAZ2 deletions are more damaging than DAZ3/DAZ4 deletions
PMID: 20823911
8
Partial AZFc deletions removing DAZ1/DAZ2 are associated with spermatogenic impairment, while those removing DAZ3/DAZ4 have no or little effect on fertility
PMID: 15744033
Disease Associationsⓘ21
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 1Open Targets
0.08Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
spermatogenic failure 22Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 40Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 76Open Targets
0.07Suggestive
spermatogenic failure 80Open Targets
0.07Suggestive
spermatogenic failure 47Open Targets
0.07Suggestive
spermatogenic failure 39Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
Spermatogenic failure Y-linked 2UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DAZ1Shared pathway100%BPY2CProtein interaction94%BPY2BProtein interaction94%DAZ3Shared pathway84%BPY2Protein interaction73%CDY1Protein interaction73%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DAZ4DAZ1BPY2CBPY2BDAZ3BPY2CDY1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86SG3
View on AlphaFold ↗
RankingsWhere DAZ4 stands among ~20K protein-coding genes
  • #10,950of 20,598
    Most Researched35
Genes detectedDAZ4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.
PMID: 24878370
Gene · 2014
1.00
2
[Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].
PMID: 16963411
Yi Chuan · 2006
0.90
3
Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population.
PMID: 23512232
World J Urol · 2013
0.80
4
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.
PMID: 14639527
Am J Hum Genet · 2004
0.70
5
gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.
PMID: 27457284
Gene · 2016
0.60