TDRKH: Tudor and KH Domain Containing Protein
A gene encoding a protein involved in piRNA processing and germ cell development
Gene Information Card
| Symbol | TDRKH |
|---|---|
| Full Name | Tudor and KH Domain Containing Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 11022 ncbi.nlm.nih.gov/gene/11022 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9Y2W1 |
| OMIM ID | 609501 |
| HGNC ID | 11713 |
| Aliases | TDRD2, TDRD2A, TDRD2B, FLJ10156 |
Description
TDRKH (Tudor and KH Domain Containing Protein) is a protein-coding gene located on chromosome 1q32.1. The encoded protein contains a Tudor domain and a KH domain, and is involved in piRNA (Piwi-interacting RNA) processing and germ cell development. It plays a critical role in spermatogenesis and transposon silencing in the male germline. TDRKH is also known as TDRD2 (Tudor domain-containing protein 2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Disruption of piRNA processing leads to defective spermatogenesis | PMID: 23468593 |
| Spermatogenic failure | Loss of TDRKH impairs transposon silencing and germ cell maturation | PMID: 23468593 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Ovary | 2.1 | Low |
| Brain | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 12.3 | Expressed |
| Embryonic stem cells (H1) | 0.9 | Low expression |
| HeLa | 0.2 | Not detected |
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 |
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TDRKH are associated with loss of piRNA processing activity and impaired 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 binding (GO:0003723) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • piRNA processing (GO:0034587) | • oogenesis (GO:0048477) |
| • spermatogenesis (GO:0007283) |
Pathways
• piRNA processing pathway
• Germ cell development
Protein Summary
The TDRKH protein (UniProt Q9Y2W1) is 684 amino acids long and contains a Tudor domain (residues 1-60) and a KH domain (residues 200-280). It localizes to the nucleus and cytoplasm, and is essential for piRNA biogenesis and transposon silencing in the male germline. The Tudor domain mediates interactions with methylated arginine residues on Piwi proteins, while the KH domain binds RNA. TDRKH is highly expressed in testis and is required for normal spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRKH Knockout HEK293 Cell Line | EDJ-KQ6623 | Human | 11022 | Details Get a Quote |
| TDRKH Knockout A-549 Cell Line | EDJ-KQ32248 | Human | 11022 | Details Get a Quote |
| TDRKH Knockout HCT 116 Cell Line | EDJ-KQ32250 | Human | 11022 | Details Get a Quote |
| TDRKH Knockout HeLa Cell Line | EDJ-KQ32251 | Human | 11022 | Details Get a Quote |
