DDX3Y

Chr Y

DEAD-box helicase 3 Y-linked

Also known as: DBY

NCBI Gene: 8653ENSG00000067048UniProt: O15523OMIM: 400010

The protein is an ATP-dependent RNA helicase that is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.29) and may enhance interferon-beta expression during immune responses. Mutations cause male infertility with reduced germ cell numbers and Sertoli-cell only syndrome. This gene follows Y-linked inheritance, being located on the Y chromosome and therefore passed from father to son.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.29
Clinical Summary— DDX3Y
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.29LOEUF
pLI 0.965
Z-score 2.99
OE 0.00 (0.00–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.10Z-score
OE missense 0.45 (0.36–0.57)
53 obs / 117.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.29)
0≤0.351.4
Missense OE0.45 (0.36–0.57)
0≤0.61.4
Synonymous OE0.79
0≤1.21.6
LoF obs/exp: 0 / 10.4Missense obs/exp: 53 / 117.0Syn Z: 0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DDX3Y · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M et al.·Trends Mol Med
2023Review
GLIO-Select: Machine Learning-Based Feature Selection and Weighting of Tissue and Serum Proteomic and Metabolomic Data Uncovers Sex Differences in Glioblastoma.
Tasci E et al.·Int J Mol Sci
2025
DDX3Y gene rescue of a Y chromosome AZFa deletion restores germ cell formation and transcriptional programs.
Ramathal C et al.·Sci Rep
2015
Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression.
Cardinal T et al.·PLoS Genet
2020Functional
[A multiplex PCR-based sensitive and specific method for detecting Y chromosome material in patients with Turner syndrome].
Zhao Q et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2022Cohort
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients