TDRD9
Tudor Domain Containing 9
Gene Information Card
| Symbol | TDRD9 |
|---|---|
| Full Name | Tudor Domain Containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 122665 ncbi.nlm.nih.gov/gene/122665 |
| Ensembl ID | ENSG00000156469 |
| UniProt ID | Q8NDG6 |
| OMIM ID | 617963 |
| HGNC ID | 26958 |
| Aliases | FLJ21032, MGC138290, TDRD9 |
Description
TDRD9 (Tudor Domain Containing 9) encodes a protein involved in the piRNA (Piwi-interacting RNA) pathway, essential for germ cell development and transposon silencing during spermatogenesis. The protein contains Tudor domains that mediate interactions with methylated arginine residues on Piwi proteins. Mutations in TDRD9 are associated with male infertility due to non-obstructive azoospermia and may contribute to susceptibility to testicular germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (NOA) | Loss-of-function mutations disrupt piRNA pathway, impairing transposon silencing and spermatogenesis, leading to meiotic arrest | ClinVar, OMIM |
| Testicular germ cell tumor (TGCT) | Variants in TDRD9 may alter piRNA-mediated epigenetic regulation, increasing genomic instability in germ cells | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Ovary | 1.2 | Low |
| Brain | 0.8 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.0 | Moderate expression |
| HeLa (cervical carcinoma) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2113C>T (p.Arg705*) | Nonsense | <0.01% | Loss of function; associated with azoospermia |
| c.1234G>A (p.Gly412Arg) | Missense | 0.02% | Likely damaging; reduced piRNA binding |
| c.3456_3457del (p.Glu1152fs) | Frameshift | <0.01% | Loss of function; reported in TGCT |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg705*, p.Glu1152fs) truncate the protein, disrupting Tudor domains and piRNA pathway function, leading to meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations documented for TDRD9.
Dominant Negative (DN)
No dominant-negative mutations documented for TDRD9.
View complete mutation data：
Gene Ontology (GO)
| • piRNA binding (GO:0034587) | • Tudor domain binding (GO:0070878) |
| • regulation of transposition (GO:0010528) | • germ cell development (GO:0007281) |
| • spermatogenesis (GO:0007283) | • meiotic cell cycle (GO:0051321) |
Pathways
• piRNA pathway (Reactome: R-HSA-5601884)
• Transposon silencing (Reactome: R-HSA-5601884)
Protein Summary
The TDRD9 protein (UniProt Q8NDG6) is a 1,382-amino acid protein containing two Tudor domains that recognize symmetrical dimethylarginine (sDMA) modifications on Piwi proteins. It localizes to nuage (germ cell-specific cytoplasmic granules) and is essential for piRNA biogenesis and transposon silencing. Loss of TDRD9 leads to derepression of retrotransposons, meiotic arrest, and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD9 Knockout HEK293 Cell Line | EDJ-KQ8149 | Human | 122402 | Details Get a Quote |
| TDRD9 Knockout HeLa Cell Line | EDJ-KQ34052 | Human | 122402 | Details Get a Quote |
| TDRD9 Knockout A-549 Cell Line | EDJ-KQ66585 | Human | 122402 | Details Get a Quote |
| TDRD9 Knockout HCT 116 Cell Line | EDJ-KQ75001 | Human | 122402 | Details Get a Quote |
