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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TSPY3
testis specific protein Y-linked 3
Chromosome Y Β· Yp11.2
NCBI Gene: 728137Ensembl: ENSG00000228927.10HGNC: HGNC:12381UniProt: F2Z2I4
4PubMed Papers
2Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatinhistone bindingchromatin bindingnucleusinfertilitycancer
✦AI Summary

Based on limited published evidence, TSPY3 is a testis-specific Y-linked gene that may be involved in sperm differentiation and proliferation. Structurally, it localizes to the nucleus and possesses chrY and histone binding properties. TSPY3 serves as a reliable male-specific genetic marker for sex identification in human samples, including ancient skeletal remains 1. The gene exhibits differential expression in the endometrium, with elevated levels observed in infertile patients compared to fertile controls, suggesting potential involvement in reproductive pathology 2.

Sources cited
1
TSPY3 amplification confirms male individuals with high specificity; useful marker for male sex identification in archaeological samples
PMID: 32621020
2
TSPY3 shows bimodal expression pattern with low expression in fertile patients and high expression in infertile patients with endometriosis
PMID: 30760267
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜2
infertilityOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NAP1L3Shared pathway100%NAP1L4Shared pathway100%TSPYL1Shared pathway100%H4C7Shared pathway100%TSPYL4Shared pathway100%TSPY2Shared pathway100%
Tissue Expression6 tissues
Ovary
0%
Liver
0%
Heart
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
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TSPY3NAP1L3NAP1L4TSPYL1H4C7TSPYL4TSPY2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P0CV98
View on AlphaFold β†—
RankingsWhere TSPY3 stands among ~20K protein-coding genes
  • #18,784of 20,598
    Most Researched4
Genes detectedTSPY3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A novel method of male sex identification of human ancient skeletal remains.
PMID: 32621020
Chromosome Res Β· 2020
1.00
2
Genomic evidence of Y chromosome microchimerism in the endometrium during endometriosis and in cases of infertility.
PMID: 30760267
Reprod Biol Endocrinol Β· 2019
0.50