TSPY3: Testis-Specific Protein Y-Encoded 3 — A Y-Chromosomal Gene with Restricted Expression and Potential Roles in Male Germline Biology
Explore the genomic context, expression profile, and clinical relevance of TSPY3, a Y-linked gene with testis-specific activity and implications in male fertility and cancer research.
Gene Information Card
| Symbol | TSPY3 |
|---|---|
| Full Name | Testis-specific protein Y-encoded 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 728261 ncbi.nlm.nih.gov/gene/728261 |
| Ensembl ID | ENSG00000283728 |
| UniProt ID | Q9BXU0 |
| OMIM ID | 461000 |
| HGNC ID | 12389 |
| Aliases | TSPY, TSPY1, TSPY2, TSPY4, TSPY8, TSPY10 |
Description
TSPY3 (Testis-specific protein Y-encoded 3) is a protein-coding gene located on the Y chromosome at Yp11.2. It belongs to the TSPY gene family, which is tandemly repeated and predominantly expressed in testicular germ cells. TSPY3 is part of a multi-copy gene cluster that has been implicated in male germ cell development and proliferation. The protein contains a nucleosome assembly protein (NAP) domain, suggesting a role in chromatin remodeling. TSPY3 expression is largely restricted to the testis, with low or no expression in other tissues. Its function is not fully characterized, but it is thought to be involved in spermatogenesis and may contribute to the oncogenic potential of germ cells when dysregulated. TSPY3 is also of interest in the context of male infertility and testicular germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumors | Overexpression of TSPY family genes, including TSPY3, may promote cell proliferation and genomic instability in germ cells, contributing to tumorigenesis. | Evidence from COSMIC and literature suggests TSPY genes are overexpressed in germ cell tumors, though specific TSPY3 data are limited. |
| Male infertility | Altered expression or copy number variations of TSPY genes, including TSPY3, may disrupt spermatogenesis, leading to reduced fertility. | Studies on TSPY family deletions and expression patterns in infertile men support a role in spermatogenesis. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | High expression (based on RNA-seq and protein data from Human Protein Atlas and GTEx) |
| Other tissues | Not available | Low or no expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NT2/D1 (embryonic carcinoma) | Not available | TSPY family expression detected; may reflect germ cell tumor origin |
| Seminoma cell lines | Not available | TSPY expression observed in seminoma-derived lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Copy number variations | CNV | Variable | Altered copy number may affect gene dosage and contribute to phenotypic variability |
| Single nucleotide variants | SNV | Rare | Functional impact not well characterized; some variants may affect protein function |
Mutation functional classification
Loss of Function (LOF)
Loss of TSPY3 function may impair spermatogenesis, but specific loss-of-function mutations have not been extensively documented.
Gain of Function (GOF)
Gain of function, such as overexpression, may promote germ cell proliferation and tumorigenesis.
Dominant Negative (DN)
No evidence for dominant-negative effects of TSPY3 mutations.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • chromatin remodeling |
| • DNA binding | • protein binding |
| • nucleus | • cytoplasm |
Pathways
• Spermatogenesis
• Chromatin organization
• Cell cycle regulation
Protein Summary
The TSPY3 protein is a 308-amino acid protein with a nucleosome assembly protein (NAP) domain. It is localized to the nucleus and cytoplasm. The NAP domain suggests involvement in chromatin dynamics, potentially regulating gene expression during spermatogenesis. TSPY3 may interact with other proteins to modulate cell cycle progression. Its expression is tightly regulated and testis-specific, indicating a specialized role in male germ cell biology. Further studies are needed to fully elucidate its molecular function and clinical significance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPY3 Knockout HEK293 Cell Line | EDJ-KQ15958 | Human | 728137 | Details Get a Quote |
| TSPY3 Knockout HeLa Cell Line | EDJ-KQ60690 | Human | 728137 | Details Get a Quote |
| TSPY3 Knockout A-549 Cell Line | EDJ-KQ69163 | Human | 728137 | Details Get a Quote |
| TSPY3 Knockout HCT 116 Cell Line | EDJ-KQ77517 | Human | 728137 | Details Get a Quote |
