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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.
TSPY2
testis specific protein Y-linked 2
Chromosome Y Β· Yp11.2
NCBI Gene: 64591Ensembl: ENSG00000168757.13HGNC: HGNC:23924UniProt: A6NGT6
6PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinghistone bindingchromatin bindingchromatinneurodegenerative diseasemelanomaglioblastoma multiformeglioma
✦AI Summary

Based on limited published evidence, TSPY2 may be involved in sperm differentiation and proliferation. Structurally, it localizes to the nucleus and possesses chrY and histone binding activities. TSPY2 copy number variations have been associated with testicular maturation arrest 1, with TSPY2 gene gains detected in approximately 23.5% of affected cases. The gene serves as a reliable Y-chrY-specific marker for gender verification in genomic datasets 2.

Sources cited
1
TSPY2 gene gains (within PAR3 CNVs) were observed in 16 testicular maturation arrest cases and associated with male infertility
PMID: 28217965
2
TSPY2 methylation patterns serve as a gender-specific marker for validating sample gender annotation in public omics datasets
PMID: 27103889
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜4
neurodegenerative diseaseOpen Targets
0.34Weak
melanomaOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
gliomaOpen 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%TSPY10Shared pathway100%
Tissue Expression6 tissues
Liver
0%
Lung
0%
Brain
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TSPY2NAP1L3NAP1L4TSPYL1H4C7TSPYL4TSPY10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A6NGT6
View on AlphaFold β†—
RankingsWhere TSPY2 stands among ~20K protein-coding genes
  • #18,245of 20,598
    Most Researched6
Genes detectedTSPY2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Copy number variations in testicular maturation arrest.
PMID: 28217965
Andrology Β· 2017
1.00
2
Non-negligible Occurrence of Errors in Gender Description in Public Data Sets.
PMID: 27103889
Genomics Inform Β· 2016
0.50