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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TDRD6
tudor domain containing 6
Chromosome 6 · 6p12.3
NCBI Gene: 221400Ensembl: ENSG00000180113.16HGNC: HGNC:21339UniProt: O60522
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spermatogenesisP granule organizationpiRNA processingP granuleazoospermiapartial chromosome Y deletionspermatogenic failure 60spermatogenic failure 59
✦AI Summary

TDRD6 (tudor domain containing 6) is an essential germ cell protein that functions in spermatogenesis through multiple interconnected mechanisms. Structurally, TDRD6 localizes to chr6 bodies, cytoplasmic ribonucleoprotein granules critical for male germ cell development 1. The protein orchestrates chr6 body assembly by interacting with core components including TDRD7, MAEL, PCBP1, DDX4, and PIWIL1, with proper localization required for UPF1 positioning and NMD pathway function 12. TDRD6 mediates RNA processing through interaction with PRMT5 and arginine-methylated SNRPB, supporting spliceosome maturation and mRNA splicing in spermatocytes 3. Clinically, bi-allelic TDRD6 loss-of-function variants cause severe oligoasthenoteratozoospermia (OAT)—characterized by low sperm concentration, reduced motility, and morphological abnormalities including acrosomal hypoplasia 13. TDRD6 mutations additionally cause oocyte activation deficiency, resulting in early embryonic arrest that is reversible through artificial oocyte activation 4. Mechanistically, TDRD6 deficiency disrupts chr6 body architecture in round spermatids, blocks spermatogenesis progression, and dysregulates mRNA metabolism processes essential for spermatid differentiation 13. TDRD6 serves as a genetic diagnostic target for male infertility, though intracytoplasmic sperm injection outcomes are unfavorable in affected individuals 3.

Sources cited
1
TDRD6 loss-of-function variants cause severe OAT, chromatoid body disruption, and assembly defects of CB proteins PIWIL1, TDRD1, TDRD7, and DDX25
PMID: 39331689
2
TDRD6 variants cause OAT with oocyte activation deficiency and early embryonic arrest; artificial oocyte activation overcomes infertility
PMID: 39764564
3
Bi-allelic TDRD6 variants cause spermiogenesis defects with acrosomal hypoplasia and mislocalisation of DDX4 and UPF1; scRNA-seq shows TDRD6 regulates mRNA metabolism in spermatid differentiation
PMID: 38341271
4
TDRD6 mediates MIWI protein interactions necessary for chromatoid body compaction and spermiogenic transcript stabilization
PMID: 38520410
5
TDRD6 is a structural component of chromatoid bodies required for long 3' UTR-mediated NMD by maintaining UPF1/UPF2 interactions and chromatoid body integrity
PMID: 28444146
6
Homozygous TDRD6 variant c.1259A>G:p.Y420C associates with OAT and early embryonic lethality; TDRD6 is testis-specific and localizes to chromatoid bodies
PMID: 29551503
7
TDRD6 is identified as a hub gene co-functioning with VASA (DDX4) in germ cell development and infertility pathways
PMID: 36241908
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 48Open Targets
0.08Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 26Open Targets
0.07Suggestive
spermatogenic failure 31Open Targets
0.07Suggestive
spermatogenic failure 53Open Targets
0.07Suggestive
spermatogenic failure 87Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TDRD9Protein interaction99%PIWIL4Protein interaction99%TDRKHProtein interaction85%PIWIL2Protein interaction80%PIWIL1Protein interaction75%DDX25Protein interaction72%
Tissue Expression6 tissues
Liver
100%
Ovary
56%
Heart
40%
Lung
26%
Brain
21%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
TDRD6TDRD9PIWIL4TDRKHPIWIL2PIWIL1DDX25
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60522
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.12 [0.98–1.27]
RankingsWhere TDRD6 stands among ~20K protein-coding genes
  • #14,835of 20,598
    Most Researched18
  • #13,375of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedTDRD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Loss-of-function variant in TDRD6 cause male infertility with severe oligo-astheno-teratozoospermia in human and mice.
PMID: 39331689
J Cell Mol Med · 2024
1.00
2
Altered zygotic gene expression caused by sperm with
PMID: 39764564
MedComm (2020) · 2025
0.90
3
VASA protein and gene expression analysis of human non-obstructive azoospermia and normal by immunohistochemistry, immunocytochemistry, and bioinformatics analysis.
PMID: 36241908
Sci Rep · 2022
0.80
4
MIWI N-terminal arginines orchestrate generation of functional pachytene piRNAs and spermiogenesis.
PMID: 38520410
Nucleic Acids Res · 2024
0.70
5
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.
PMID: 38341271
J Med Genet · 2024
0.60