DDX3Y

Chr Y

DEAD-box helicase 3 Y-linked

Also known as: DBY

NCBI Gene: 8653 ENSG00000067048 UniProt: O15523 OMIM: 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.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

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Mechanism

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GeneReview available — DDX3Y