DDX25: DEAD-Box Helicase 25
A testis-specific RNA helicase involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | DDX25 |
|---|---|
| Full Name | DEAD-box helicase 25 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 29118 ncbi.nlm.nih.gov/gene/29118 |
| Ensembl ID | ENSG00000109819 |
| UniProt ID | Q9UHL0 |
| OMIM ID | 606168 |
| HGNC ID | 2741 |
| Aliases | GRTH |
Description
DDX25 (DEAD-box helicase 25), also known as GRTH (Gonadotropin-Regulated Testicular RNA Helicase), is a member of the DEAD-box protein family of RNA helicases. It is predominantly expressed in the testis and plays a critical role in spermatogenesis, specifically in the post-meiotic stages of germ cell development. DDX25 is involved in RNA unwinding, ribosome biogenesis, and translational regulation, and its expression is regulated by gonadotropins. Mutations in DDX25 are associated with male infertility due to impaired sperm production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations in DDX25 disrupt RNA helicase activity, leading to defective spermatogenesis and reduced sperm count. | ClinVar; OMIM |
| Non-obstructive azoospermia | DDX25 mutations impair post-meiotic germ cell development, resulting in azoospermia. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Ovary | 0.3 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 35.2 | High expression in meiotic cells |
| Round spermatids | 42.1 | Highest expression in post-meiotic cells |
| Sertoli cells | 1.2 | Low expression |
| Leydig cells | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Impaired helicase activity |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent DDX25 protein, disrupting RNA helicase activity and spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • RNA binding (GO:0003723) | • spermatogenesis (GO:0007283) |
| • ribosome biogenesis (GO:0042254) | • translation (GO:0006412) |
Pathways
• Spermatogenesis
• RNA metabolism
• Ribosome biogenesis in eukaryotes
Protein Summary
DDX25 encodes a 724-amino acid protein (UniProt Q9UHL0) that belongs to the DEAD-box helicase family. It contains conserved helicase domains (DEXDc and HELICc) and is localized to the nucleus and cytoplasm of testicular germ cells. The protein functions as an ATP-dependent RNA helicase, unwinding RNA secondary structures to facilitate translation and ribosome assembly during spermatogenesis. DDX25 is essential for the transition from round spermatids to elongated spermatids, and its loss leads to male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX25 Knockout HEK293 Cell Line | EDJ-KQ8998 | Human | 29118 | Details Get a Quote |
| DDX25 Knockout HeLa Cell Line | EDJ-KQ56102 | Human | 29118 | Details Get a Quote |
| DDX25 Knockout A-549 Cell Line | EDJ-KQ64588 | Human | 29118 | Details Get a Quote |
| DDX25 Knockout HCT 116 Cell Line | EDJ-KQ73042 | Human | 29118 | Details Get a Quote |
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