2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
6PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindinghistone bindingchromatin bindingchromatinneurodegenerative diseasemelanomaglioblastoma multiformeglioma
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.
1
TSPY2 gene gains (within PAR3 CNVs) were observed in 16 testicular maturation arrest cases and associated with male infertility
PMID: 282179652
TSPY2 methylation patterns serve as a gender-specific marker for validating sample gender annotation in public omics datasets
PMID: 27103889β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
glioblastoma multiformeOpen Targets
No pathogenic variants reported on ClinVar for this gene.