TDRD7
Tudor Domain Containing 7: A Key Regulator of RNA Metabolism and Germ Cell Development
Gene Information Card
| Symbol | TDRD7 |
|---|---|
| Full Name | Tudor Domain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 23424 ncbi.nlm.nih.gov/gene/23424 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q8NHU6 |
| OMIM ID | 611258 |
| HGNC ID | 14584 |
| Aliases | PCTAIRE2BP, TRAP, MGC138499, MGC138500 |
Description
TDRD7 (Tudor Domain Containing 7) encodes a protein that belongs to the Tudor family, characterized by Tudor domains that bind methylated arginine or lysine residues. The protein is involved in RNA processing, germ cell development, and the assembly of ribonucleoprotein complexes. It is essential for spermatogenesis and lens development. Mutations in TDRD7 are associated with autosomal recessive congenital cataract and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital cataract | Loss-of-function mutations in TDRD7 disrupt RNA granule formation in lens epithelial cells, leading to cataract | OMIM #611258; PMID: 21258341 |
| Male infertility (non-obstructive azoospermia) | TDRD7 deficiency impairs chromatoid body function and piRNA pathway, causing spermatogenic arrest | PMID: 21258341; PMID: 25620204 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Eye (retina) | 12.5 | Medium |
| Brain (cerebellum) | 8.9 | Medium |
| Lung | 4.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 45.6 | High expression; relevant for germ cell studies |
| HepG2 (hepatocellular carcinoma) | 2.3 | Low expression |
| A549 (lung carcinoma) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2518C>T (p.Arg840*) | Nonsense | Rare | Loss of function; associated with cataract |
| c.1462C>T (p.Arg488*) | Nonsense | Rare | Loss of function; associated with male infertility |
| c.3076_3077del (p.Leu1026Valfs*2) | Frameshift | Rare | Loss of function; cataract |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons and truncated protein; associated with cataract and male infertility.
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 | • methylated histone binding |
| • piRNA binding | • germ cell development |
| • spermatogenesis | • lens development in camera-type eye |
| • cytoplasmic stress granule | • P-body |
| • chromatoid body |
Pathways
• piRNA pathway
• RNA surveillance
• mRNA processing
Protein Summary
The TDRD7 protein (UniProt Q8NHU6) contains three Tudor domains and a LOTUS domain. It localizes to cytoplasmic granules such as chromatoid bodies and stress granules. It binds methylated arginine residues on proteins and is involved in piRNA-mediated gene silencing and RNA metabolism. The protein is critical for male germ cell differentiation and lens transparency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD7 Knockout HEK293 Cell Line | EDJ-KQ2073 | Human | 23424 | Details Get a Quote |
| TDRD7 Knockout A-549 Cell Line | EDJ-KQ22151 | Human | 23424 | Details Get a Quote |
| TDRD7 Knockout HCT 116 Cell Line | EDJ-KQ22152 | Human | 23424 | Details Get a Quote |
| TDRD7 Knockout HeLa Cell Line | EDJ-KQ22153 | Human | 23424 | Details Get a Quote |
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