TSPY4
Testis-Specific Protein Y-Encoded 4
Gene Information Card
| Symbol | TSPY4 |
|---|---|
| Full Name | Testis-Specific Protein Y-Encoded 4 |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.221 |
| NCBI Gene ID | 728395 ncbi.nlm.nih.gov/gene/728395 |
| Ensembl ID | ENSG00000229995 |
| UniProt ID | Q5JSH3 |
| OMIM ID | 400054 |
| HGNC ID | 18387 |
| Aliases | TSPY-like 4, TSPY4 |
Description
TSPY4 (Testis-Specific Protein Y-Encoded 4) is a protein-coding gene located on the Y chromosome. It belongs to the TSPY gene family, which is predominantly expressed in testis and implicated in spermatogenesis and male fertility. The encoded protein may play a role in testicular development and germ cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gonadoblastoma | Overexpression of TSPY family members in dysgenetic gonads may contribute to tumorigenesis | PMID: 12471204 |
| Male infertility | Deletions or alterations in Y-chromosomal TSPY genes are associated with spermatogenic failure | PMID: 15666376 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Prostate | 0.2 | Not detected |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.3 | Moderate expression |
| HeLa (cervical carcinoma) | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| g.2654321_2654987del | Deletion | 0.1% in infertile males | Associated with spermatogenic arrest |
Mutation functional classification
Loss of Function (LOF)
Deletions in TSPY4 may impair spermatogenesis, leading to reduced male fertility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Protein Summary
The TSPY4 protein is a testis-specific, Y-encoded protein of unknown molecular function. It is predicted to be localized to the nucleus and may be involved in chromatin organization or transcriptional regulation during spermatogenesis. No enzymatic activity has been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPY4 Knockout HEK293 Cell Line | EDJ-KQ15959 | Human | 728395 | Details Get a Quote |
| TSPY4 Knockout HeLa Cell Line | EDJ-KQ60709 | Human | 728395 | Details Get a Quote |
| TSPY4 Knockout A-549 Cell Line | EDJ-KQ69181 | Human | 728395 | Details Get a Quote |
| TSPY4 Knockout HCT 116 Cell Line | EDJ-KQ77535 | Human | 728395 | Details Get a Quote |
