DDX3Y
DEAD-box helicase 3 Y-linked
Gene Information Card
| Symbol | DDX3Y |
|---|---|
| Full Name | DEAD-box helicase 3 Y-linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.221 |
| NCBI Gene ID | 8653 ncbi.nlm.nih.gov/gene/8653 |
| Ensembl ID | ENSG00000067048 |
| UniProt ID | O15523 |
| OMIM ID | 400010 |
| HGNC ID | 2699 |
| Aliases | DBY, DEAD box protein 3 Y-chromosomal |
Description
DDX3Y encodes a DEAD-box RNA helicase that is essential for spermatogenesis. It is located on the Y chromosome and is expressed predominantly in testis. Mutations or deletions of DDX3Y are associated with azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Loss of DDX3Y function disrupts RNA metabolism required for spermatogenesis | ClinVar, OMIM |
| Sertoli cell-only syndrome | Deletion of DDX3Y leads to absence of germ cells in seminiferous tubules | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Prostate | 1.2 | Low |
| Other tissues | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular germ cells | 45.0 | High expression |
| Sertoli cells | 2.0 | Low expression |
| Leydig cells | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| Deletion of Yq11.221 | Structural variant | Common in azoospermic males | Complete loss of DDX3Y |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations cause loss of helicase activity, impairing spermatogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity | • ATP binding |
| • RNA secondary structure unwinding | • spermatogenesis |
| • male gonad development |
Pathways
• Spermatogenesis
• RNA metabolism
Protein Summary
DDX3Y is a 660-amino acid DEAD-box RNA helicase localized to the nucleus and cytoplasm. It unwinds RNA secondary structures and is critical for translation initiation and RNA processing during male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX3Y Knockout HEK293 Cell Line | EDJ-KQ6318 | Human | 8653 | Details Get a Quote |
| DDX3Y Knockout A-549 Cell Line | EDJ-KQ30242 | Human | 8653 | Details Get a Quote |
| DDX3Y Knockout HCT 116 Cell Line | EDJ-KQ30243 | Human | 8653 | Details Get a Quote |
| DDX3Y Knockout HeLa Cell Line | EDJ-KQ54972 | Human | 8653 | Details Get a Quote |
