TSPY1 (testis specific protein Y-linked 1)

Gene

• Entrez ID: 7258
• Gene name: Testis specific protein Y-linked 1
• Gene symbol: TSPY1
• Synonyms (NCBI Gene): CT78, DYS14, TSPY, pJA923
• Chromosome: Y
• Chromosome location: Yp11.2
• Summary: The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is foun

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	18649364
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006334	Process	Nucleosome assembly	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007506	Process	Gonadal mesoderm development	IEA
GO:0007548	Process	Sex differentiation	TAS	1284595
GO:0030154	Process	Cell differentiation	IEA
GO:0042393	Function	Histone binding	IBA

Other IDs

• MIM: 480100
• HGNC: 12381
• e!Ensembl: ENSG00000258992

Interactions View interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHROMOSOME Y MICRODELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO CHROMOSOME Y MICRODELETION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations