TSPY9 (Testis Specific Protein, Y-Linked 9): A Y-Chromosome Gene with Potential Roles in Male Germ Cell Biology
Explore the genomic context, expression patterns, and clinical relevance of TSPY9, a member of the TSPY gene family on the human Y chromosome.
Gene Information Card
| Symbol | TSPY9 |
|---|---|
| Full Name | Testis Specific Protein, Y-Linked 9 |
| Gene Type | protein-coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 728385 ncbi.nlm.nih.gov/gene/728385 |
| Ensembl ID | ENSG00000283835 |
| UniProt ID | Q5J7C9 |
| OMIM ID | 461000 |
| HGNC ID | 30780 |
| Aliases | TSPY-like 9, TSPY9 |
Description
TSPY9 (Testis Specific Protein, Y-Linked 9) is a protein-coding gene located on the short arm of the Y chromosome (Yp11.2). It belongs to the TSPY gene family, which is characterized by tandemly repeated genes predominantly expressed in testicular germ cells. TSPY9 is one of several TSPY copies that vary in number among individuals. The encoded protein contains a nucleosome assembly protein (NAP) domain, suggesting a role in chromatin remodeling during spermatogenesis. Although its exact function is not fully characterized, TSPY9 is thought to contribute to male germ cell development and may be implicated in male infertility and germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered copy number or expression of TSPY genes may disrupt spermatogenesis; TSPY9 is part of the TSPY cluster, and deletions or rearrangements in this region have been associated with spermatogenic failure. | Limited direct evidence; inferred from TSPY family studies and Y-chromosome microdeletion analyses. |
| Gonadoblastoma | TSPY genes are expressed in gonadoblastoma and may act as oncogenes in dysgenetic gonads; TSPY9, as a family member, could contribute to tumorigenesis. | Indirect evidence from TSPY family expression in germ cell tumors. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | High expression expected based on TSPY family; specific TSPY9 data not available. |
| Other tissues | Not available | No significant expression reported. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NT2/D1 (embryonal carcinoma) | Not available | TSPY family expressed; TSPY9 not specifically quantified. |
| TCam-2 (seminoma) | Not available | TSPY family expressed; TSPY9 not specifically quantified. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not applicable | No disease-associated mutations documented in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for TSPY9.
Gain of Function (GOF)
No gain-of-function mutations have been described.
Dominant Negative (DN)
No dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • DNA binding |
| • chromatin remodeling | • spermatogenesis |
Pathways
• Spermatogenesis
• Chromatin organization
Protein Summary
The TSPY9 protein is predicted to contain a nucleosome assembly protein (NAP) domain, which is involved in histone binding and chromatin assembly. This suggests a role in chromatin dynamics during male germ cell development. The protein is likely localized to the nucleus and may interact with histones to facilitate DNA packaging in spermatogenic cells. However, experimental validation of its function is lacking, and further studies are needed to confirm its biological role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPY9 Knockout HEK293 Cell Line | EDJ-KQ15961 | Human | 728132 | Details Get a Quote |
| TSPY9 Knockout A-549 Cell Line | EDJ-KQ46987 | Human | 728132 | Details Get a Quote |
| TSPY9 Knockout HCT 116 Cell Line | EDJ-KQ46988 | Human | 728132 | Details Get a Quote |
| TSPY9 Knockout HeLa Cell Line | EDJ-KQ46989 | Human | 728132 | Details Get a Quote |
