TSSK2 (Testis-Specific Serine Kinase 2)
A testis-enriched kinase involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | TSSK2 |
|---|---|
| Full Name | Testis-Specific Serine Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 23617 ncbi.nlm.nih.gov/gene/23617 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q96RG2 |
| OMIM ID | 606670 |
| HGNC ID | 11409 |
| Aliases | SPOGA4, STK22B, TSK2, TSSK-2 |
Description
TSSK2 (testis-specific serine kinase 2) is a member of the testis-specific serine/threonine kinase family. It is predominantly expressed in the testis and plays a critical role in spermatogenesis, particularly in the post-meiotic stages of sperm development. TSSK2 is involved in the regulation of sperm maturation, motility, and male fertility. Mutations in TSSK2 have been associated with male infertility and spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations impair spermatogenesis, leading to reduced sperm count and motility | ClinVar, OMIM |
| Non-obstructive azoospermia | Disruption of TSSK2 kinase activity prevents proper sperm cell development | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (seminiferous tubule) | N/A | High expression in spermatocytes and spermatids |
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.434C>T (p.Pro145Leu) | Missense | Rare | Reduced kinase activity, associated with spermatogenic failure |
| c.826C>T (p.Arg276*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish kinase activity, leading to impaired spermatogenesis and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for TSSK2.
Dominant Negative (DN)
No dominant-negative mutations reported for TSSK2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004672 (protein kinase activity) | • GO:0004674 (protein serine/threonine kinase activity) |
| • GO:0005524 (ATP binding) | • GO:0007283 (spermatogenesis) |
| • GO:0007286 (spermatid development) | • GO:0030154 (cell differentiation) |
| • GO:0048477 (oogenesis) | • GO:0005737 (cytoplasm) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
TSSK2 encodes a 367-amino acid serine/threonine kinase with a catalytic domain typical of the CAMK family. The protein is localized to the cytoplasm and is highly expressed in testicular germ cells, particularly in spermatocytes and spermatids. It phosphorylates substrates involved in chromatin condensation and flagellar assembly during spermiogenesis. TSSK2 interacts with other TSSK family members and is essential for the final stages of sperm maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSSK2 Knockout HEK293 Cell Line | EDJ-KQ51122 | Human | 23617 | Details Get a Quote |
| TSSK2 Knockout HeLa Cell Line | EDJ-KQ55782 | Human | 23617 | Details Get a Quote |
| TSSK2 Knockout A-549 Cell Line | EDJ-KQ64277 | Human | 23617 | Details Get a Quote |
| TSSK2 Knockout HCT 116 Cell Line | EDJ-KQ72723 | Human | 23617 | Details Get a Quote |
| TSSK2 Knockout HAP1 Cell Line | EDC08076 | Human | 23617 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
