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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DAZL
deleted in azoospermia like
Chromosome 3 Β· 3p24.3
NCBI Gene: 1618Ensembl: ENSG00000092345.14HGNC: HGNC:2685UniProt: A0A140VK77
83PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmprotein-containing complexprotein bindingtranslation activator activityTesticular Germ Cell Tumortesticular carcinomaspondylolisthesishemorrhage
✦AI Summary

DAZL (Deleted in Azoospermia Like) is an RNA-binding protein essential for gametogenesis in both males and females, playing critical roles in reproductive development and cellular regulation 1. The protein contains one RNA recognition motif and one DAZ repeat, specifically binding to GUU triplets in the 3' untranslated regions of target mRNAs to regulate translation 12. DAZL functions through multiple mechanisms including translational activation, mRNA stabilization, and enhancement of microRNA processing by directly binding precursor miRNAs and increasing DICER cleavage activity 13. Beyond its established role in germ cell development, DAZL regulates cell proliferation by promoting miRNA maturation, which silences proliferation regulators like TRIM71 3. The gene is clinically significant in reproductive medicine, as complete deletion of the related DAZ cluster shows strong association with male infertility (OR=13.23) 4, while DAZL mutations are implicated in primary ovarian insufficiency 5. Importantly, DAZL expression serves as a marker of germline commitment during human development, with its induction indicating successful progression from primordial germ cell specification 6. Additionally, DAZL dysregulation has been observed in glioblastoma, where it contributes to tumorigenicity and stemness, suggesting broader roles beyond reproductive biology 7.

Sources cited
1
DAZL is a germ cell-specific RNA-binding protein that binds GUU triplets in 3' UTRs and regulates translation
PMID: 24715697
2
DAZL protein structure contains one RNA recognition motif and one DAZ repeat
PMID: 40708703
3
DAZL enhances microRNA processing by binding precursor miRNAs and increasing DICER activity
PMID: 36273819
4
Complete DAZ cluster deletion shows strong association with male infertility (OR=13.23)
PMID: 36434389
5
DAZL mutations are implicated in primary ovarian insufficiency
PMID: 34794894
6
DAZL expression serves as a marker of germline commitment during human development
PMID: 37709822
7
DAZL contributes to glioblastoma tumorigenicity and stemness
PMID: 32682409
Disease Associationsβ“˜20
Testicular Germ Cell TumorOpen Targets
0.43Moderate
testicular carcinomaOpen Targets
0.32Weak
spondylolisthesisOpen Targets
0.32Weak
gastric ulcerOpen Targets
0.27Weak
hemorrhageOpen Targets
0.27Weak
breast diseaseOpen Targets
0.26Weak
cardiovascular diseaseOpen Targets
0.18Weak
ovarian neoplasmOpen Targets
0.17Weak
obesityOpen Targets
0.15Weak
overnutritionOpen Targets
0.12Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
glioblastomaOpen Targets
0.08Suggestive
spermatogenic failure 1Open Targets
0.08Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 22Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
Pathogenic Variants2
NM_001351.4(DAZL):c.197T>A (p.Val66Glu)Likely pathogenic
Idiopathic male infertility
β˜†β˜†β˜†β˜†2022β†’ Residue 66
NM_001351.4(DAZL):c.220dup (p.Asp74fs)Pathogenic
Idiopathic male infertility
β˜†β˜†β˜†β˜†2022β†’ Residue 74
View on ClinVar β†—
Related Genes
PUM2Protein interaction99%DAZAP2Protein interaction94%DDX4Protein interaction92%SYCE1Protein interaction88%SYCE2Protein interaction87%NANOS3Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
50%
Liver
0%
Heart
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
DAZLPUM2DAZAP2DDX4SYCE1SYCE2NANOS3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92904
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.20]
RankingsWhere DAZL stands among ~20K protein-coding genes
  • #5,725of 20,598
    Most Researched83
  • #4,347of 5,498
    Most Pathogenic Variants2
  • #451of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedDAZL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Directed differentiation of human iPSCs to functional ovarian granulosa-like cells via transcription factor overexpression.
PMID: 36803359
Elife Β· 2023
1.00
2
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.90
3
DMRT1 regulates human germline commitment.
PMID: 37709822
Nat Cell Biol Β· 2023
0.80
4
Association of DAZL polymorphisms and DAZ deletion with male infertility: a systematic review and meta-analysis.
PMID: 36434389
Genes Genomics Β· 2023
0.70
5
The roles of DAZL in RNA biology and development.
PMID: 24715697
Wiley Interdiscip Rev RNA Β· 2014
0.60