TDRD12
Tudor Domain Containing 12
Gene Information Card
| Symbol | TDRD12 |
|---|---|
| Full Name | Tudor Domain Containing 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 91646 ncbi.nlm.nih.gov/gene/91646 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q587J7 |
| OMIM ID | 614791 |
| HGNC ID | 28976 |
| Aliases | FLJ32810, MGC138290, TDRD12 |
Description
TDRD12 (Tudor Domain Containing 12) is a protein-coding gene involved in the piRNA (Piwi-interacting RNA) pathway, which is 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. TDRD12 is predominantly expressed in testis and plays a critical role in male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss-of-function mutations in TDRD12 disrupt piRNA biogenesis, leading to defective spermatogenesis and germ cell loss. | Case-control studies and exome sequencing (PMID: 26046463) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.6 | High |
| Fallopian tube | 2.1 | Low |
| Ovary | 1.5 | Low |
| Prostate | 0.8 | Not detected |
| Thyroid | 0.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Moderate expression |
| Embryonic stem cell (H1) | 0.2 | Very low |
| HeLa | 0.1 | 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% in gnomAD) | Premature truncation; loss of Tudor domain function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare (0.0005% in gnomAD) | Loss of protein function; associated with azoospermia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent TDRD12 protein, impairing piRNA pathway and 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)
| • piRNA binding (GO:0034587) | • Tudor domain binding (GO:0034648) |
| • piRNA metabolic process (GO:0034587) | • germ cell development (GO:0007281) |
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• piRNA biogenesis (Reactome: R-HSA-5601884)
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
TDRD12 is a 1,032-amino acid protein containing two Tudor domains. It localizes to the nuage (germ cell-specific cytoplasmic granules) and interacts with Piwi proteins (PIWIL1, PIWIL2) via methylated arginine residues. TDRD12 is essential for primary piRNA biogenesis and transposon silencing in male germ cells. Loss of TDRD12 leads to meiotic arrest and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD12 Knockout HEK293 Cell Line | EDJ-KQ10759 | Human | 91646 | Details Get a Quote |
| TDRD12 Knockout HeLa Cell Line | EDJ-KQ57807 | Human | 91646 | Details Get a Quote |
| TDRD12 Knockout A-549 Cell Line | EDJ-KQ66303 | Human | 91646 | Details Get a Quote |
| TDRD12 Knockout HCT 116 Cell Line | EDJ-KQ74727 | Human | 91646 | Details Get a Quote |
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