TDRD5 (Tudor Domain Containing 5)
A key regulator of piRNA biogenesis and male germ cell development
Gene Information Card
| Symbol | TDRD5 |
|---|---|
| Full Name | Tudor Domain Containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 163589 ncbi.nlm.nih.gov/gene/163589 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8N9L9 |
| OMIM ID | 614656 |
| HGNC ID | 25724 |
| Aliases | CT45, TDRD5A, TDRD5B |
Description
TDRD5 encodes a member of the Tudor domain-containing protein family, which is essential for piRNA (Piwi-interacting RNA) biogenesis and transposon silencing in male germ cells. The protein localizes to nuage (germ granules) and interacts with PIWI proteins to regulate spermatogenesis. Loss of TDRD5 leads to meiotic arrest and male infertility in mice.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Disruption of piRNA pathway leads to transposon activation and meiotic arrest | Mouse knockout models; human genetic studies (PMID: 24899514) |
| Testicular germ cell tumors | Dysregulation of TDRD5 expression may contribute to tumorigenesis | Expression profiling in seminoma (PMID: 23358651) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Ovary | 1.3 | Low |
| Brain | 0.5 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 12.8 | Moderate expression |
| Embryonic stem cells (H1) | 0.2 | Low expression |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare (0.001%) | Loss of function; associated with azoospermia |
| c.567G>A (p.Trp189*) | Nonsense | Rare (0.0005%) | Premature stop; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations in TDRD5 lead to truncated protein, disrupting piRNA biogenesis and causing meiotic arrest.
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)
| • piRNA binding (GO:0034587) | • Tudor domain binding (GO:0034648) |
| • piRNA metabolic process (GO:0034587) | • spermatogenesis (GO:0007283) |
| • germ cell development (GO:0007281) | • nuage (GO:0043186) |
Pathways
• piRNA biogenesis (R-HSA-5601884)
• Meiotic recombination (R-HSA-1500620)
Protein Summary
TDRD5 is a 1,200-amino acid protein containing multiple Tudor domains that mediate interactions with symmetrically dimethylated arginine residues on PIWI proteins. It is essential for primary piRNA processing and transposon silencing in male germ cells. The protein is predominantly expressed in testis and localizes to nuage structures.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD5 Knockout HEK293 Cell Line | EDJ-KQ14894 | Human | 163589 | Details Get a Quote |
| TDRD5 Knockout HeLa Cell Line | EDJ-KQ58861 | Human | 163589 | Details Get a Quote |
| TDRD5 Knockout A-549 Cell Line | EDJ-KQ67352 | Human | 163589 | Details Get a Quote |
| TDRD5 Knockout HCT 116 Cell Line | EDJ-KQ75743 | Human | 163589 | Details Get a Quote |
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