TSPY2 (Testis Specific Protein Y-Linked 2): Genetics, Expression, and Disease Relevance
A comprehensive biomedical overview of TSPY2, including gene structure, tissue expression, mutations, and clinical significance, based on authoritative databases.
Gene Information Card
| Symbol | TSPY2 |
|---|---|
| Full Name | Testis Specific Protein Y-Linked 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 728115 ncbi.nlm.nih.gov/gene/728115 |
| Ensembl ID | ENSG00000205916 |
| UniProt ID | Q6XPS0 |
| OMIM ID | 400033 |
| HGNC ID | 30711 |
| Aliases | TSPY, TSPY1, TSPY2 (gene family member) |
Description
TSPY2 is a protein-coding gene located on the Y chromosome at band Yp11.2. It belongs to the TSPY gene family, which is expressed predominantly in testicular tissue. The TSPY2 protein contains a SET/NAP domain and is implicated in spermatogenesis and cell cycle regulation. TSPY2 is part of a multi-copy gene cluster on the Y chromosome, and its expression is often dysregulated in germ cell tumors, particularly seminomas. The gene is also studied for its role in male fertility and as a potential biomarker for testicular cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular Germ Cell Tumor (Seminoma) | Overexpression of TSPY2 in germ cells may promote cell proliferation and inhibit apoptosis, contributing to tumorigenesis. | Expression studies in tumor tissues and cell lines (e.g., TCam-2) show elevated TSPY2 mRNA and protein levels compared to normal testis (NCBI Gene, COSMIC). |
| Male Infertility | Copy number variations or mutations in TSPY2 may disrupt spermatogenesis, leading to reduced sperm count or quality. | Genetic association studies in infertile men have reported altered TSPY2 copy numbers (OMIM, ClinVar). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (e.g., ~100 nTPM) | Predominant expression in adult testis, specifically in spermatogonia and early spermatocytes. |
| Other tissues | Low/Not detected | Minimal expression in somatic tissues; occasional low-level expression in some cancer cell lines. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| TCam-2 (seminoma cell line) | High | Used as a model for seminoma; TSPY2 is overexpressed. |
| NT2/D1 (embryonal carcinoma) | Moderate | Expression detected but lower than in seminoma cells. |
| HeLa (cervical carcinoma) | Low | Ectopic expression observed, but not physiologically relevant. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Copy number gain | Copy number variation (CNV) | Frequent in testicular germ cell tumors | Increased TSPY2 copy number leads to overexpression, potentially driving oncogenesis. |
| Missense variants | Single nucleotide variants | Rare in population databases | Functional impact not fully characterized; may affect protein stability or interaction. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TSPY2 are not well-documented; however, deletions of the Yp11.2 region encompassing TSPY2 may contribute to spermatogenic failure.
Gain of Function (GOF)
Gain-of-function via copy number amplification is observed in seminomas, leading to increased TSPY2 expression and oncogenic activity.
Dominant Negative (DN)
No evidence for dominant-negative effects of TSPY2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • cytoplasm |
| • protein binding | • cell cycle |
| • spermatogenesis | • regulation of cell proliferation |
| • apoptosis |
Pathways
• Cell cycle regulation
• Apoptosis signaling
• Spermatogenesis
Protein Summary
The TSPY2 protein is a 308-amino acid protein with a predicted molecular mass of ~35 kDa. It contains a conserved SET/NAP domain, which is involved in chromatin remodeling and transcriptional regulation. TSPY2 is localized to the nucleus and cytoplasm, and it interacts with various proteins to modulate cell cycle progression and apoptosis. In normal testis, TSPY2 is expressed in spermatogonia and early spermatocytes, suggesting a role in germ cell development. In pathological conditions, such as seminoma, TSPY2 overexpression promotes cell survival and proliferation, contributing to tumor growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPY2 Knockout HEK293 Cell Line | EDJ-KQ15957 | Human | 64591 | Details Get a Quote |
| TSPY2 Knockout HeLa Cell Line | EDJ-KQ57065 | Human | 64591 | Details Get a Quote |
| TSPY2 Knockout A-549 Cell Line | EDJ-KQ65577 | Human | 64591 | Details Get a Quote |
| TSPY2 Knockout HCT 116 Cell Line | EDJ-KQ74007 | Human | 64591 | Details Get a Quote |
