TDRD6
Tudor Domain Containing 6: A Key Regulator of Spermatogenesis and piRNA Pathway
Gene Information Card
| Symbol | TDRD6 |
|---|---|
| Full Name | Tudor Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 221400 ncbi.nlm.nih.gov/gene/221400 |
| Ensembl ID | ENSG00000112414 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 611200 |
| HGNC ID | 28397 |
| Aliases | TDRD6, CT46, MGC138290 |
Description
TDRD6 (Tudor Domain Containing 6) is a protein-coding gene located on chromosome 6q25.3. It encodes a member of the Tudor domain-containing protein family, which is essential for germ cell development. TDRD6 is predominantly expressed in the testis and plays a critical role in spermatogenesis, particularly in the piRNA (PIWI-interacting RNA) pathway, where it interacts with PIWI proteins to regulate transposon silencing and germ cell maturation. Mutations in TDRD6 are associated with spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 46 | Loss of TDRD6 function disrupts piRNA pathway and meiotic progression, leading to azoospermia | ClinVar, OMIM |
| Male infertility | Defects in TDRD6 impair sperm production and maturation | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Ovary | 0.2 | Not detected |
| Brain | 0.1 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.0 | Moderate expression |
| Embryonic stem cells (H1) | 0.5 | 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 | Loss of function; associated with azoospermia |
| c.567_568del (p.Glu189fs) | Frameshift | Rare | Truncated protein; disrupts Tudor domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TDRD6 lead to truncated proteins that fail to interact with PIWI proteins, impairing piRNA biogenesis and causing meiotic arrest.
Gain of Function (GOF)
No gain-of-function mutations reported for TDRD6.
Dominant Negative (DN)
No dominant-negative mutations reported for TDRD6.
View complete mutation data：
Gene Ontology (GO)
| • piRNA binding | • RNA binding |
| • protein binding | • spermatogenesis |
| • piRNA metabolic process | • meiotic cell cycle |
| • germ cell development | • nucleus |
| • cytoplasm | • P-body |
Pathways
• piRNA pathway
• Meiotic recombination
• Germ cell development
Protein Summary
The TDRD6 protein contains multiple Tudor domains that mediate interactions with methylated arginine residues on PIWI proteins. It localizes to nuage and chromatoid bodies in germ cells, where it facilitates piRNA processing and transposon silencing. TDRD6 is essential for meiotic progression and spermatid maturation; its loss results in spermatogenic arrest and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD6 Knockout HEK293 Cell Line | EDJ-KQ8818 | Human | 221400 | Details Get a Quote |
| TDRD6 Knockout HeLa Cell Line | EDJ-KQ59164 | Human | 221400 | Details Get a Quote |
| TDRD6 Knockout A-549 Cell Line | EDJ-KQ67637 | Human | 221400 | Details Get a Quote |
| TDRD6 Knockout HCT 116 Cell Line | EDJ-KQ76022 | Human | 221400 | Details Get a Quote |
