TSGA13: Testis-Specific Gene 13 Protein
A testis-enriched gene with potential roles in spermatogenesis and male fertility.
Gene Information Card
| Symbol | TSGA13 |
|---|---|
| Full Name | Testis-Specific Gene 13 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 284367 ncbi.nlm.nih.gov/gene/284367 |
| Ensembl ID | ENSG00000146540 |
| UniProt ID | Q8N6L0 |
| OMIM ID | 610089 |
| HGNC ID | 30798 |
| Aliases | CT78, C7orf20, MGC131831 |
Description
TSGA13 (testis-specific gene 13) is a protein-coding gene located on chromosome 7q32.2. It is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The encoded protein is localized to the cytoplasm and may be involved in male germ cell development. Limited functional studies are available, but its testis-enriched expression pattern suggests a specific role in reproductive biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Potential involvement in spermatogenic failure; reduced expression observed in some infertile men | Expression studies (PubMed) |
| Testicular germ cell tumors | Altered TSGA13 expression reported in some testicular cancer subtypes | Gene expression profiling (PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Ovary | 0.6 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.0 | Moderate expression |
| Embryonic carcinoma cell line (NTERA-2) | 8.5 | Moderate expression |
| HeLa | 0.2 | Very low |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.415G>A (p.Gly139Ser) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TSGA13.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations known.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • spermatogenesis (GO:0007283) |
| • protein binding (GO:0005515) |
Pathways
• No curated pathways available.
Protein Summary
The TSGA13 protein (UniProt Q8N6L0) is a 267-amino-acid polypeptide with no characterized domains. It is predicted to be cytoplasmic and is highly expressed in testis. Its exact molecular function remains unclear, but it is hypothesized to participate in spermatogenesis based on expression data.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSGA13 Knockout HEK293 Cell Line | EDJ-KQ6844 | Human | 114960 | Details Get a Quote |
| TSGA13 Knockout HeLa Cell Line | EDJ-KQ57943 | Human | 114960 | Details Get a Quote |
| TSGA13 Knockout A-549 Cell Line | EDJ-KQ66434 | Human | 114960 | Details Get a Quote |
| TSGA13 Knockout HCT 116 Cell Line | EDJ-KQ74859 | Human | 114960 | Details Get a Quote |
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