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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSSK2
testis specific serine kinase 2
Chromosome 22 · 22q11.21
NCBI Gene: 23617Ensembl: ENSG00000206203.5HGNC: HGNC:11401UniProt: A0ZT99
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein autophosphorylationmagnesium ion bindingprotein serine/threonine kinase activityprotein bindingazoospermiaMale infertility with spermatogenesis disorder due to single gene mutationFemale infertility due to fertilization defectRare genetic female infertility
✦AI Summary

TSSK2 is a testis-specific serine/threonine kinase essential for male fertility, predominantly expressed in testis tissue 1. During spermatogenesis, TSSK2 phosphorylates its substrate TSKS and SPAG16 protein, playing a critical role in late spermatid development, particularly in flagellogenesis and cytoplasmic reconstruction 2. In mature sperm, TSSK2 localizes to the post-acrosomal region in mice and the equatorial region and neck in human sperm, where it regulates sperm function 3. Targeted deletion of Tssk2 in mice causes infertility due to dysregulation of spermiogenesis 4. In humans, genetic variations in TSSK2 are associated with male idiopathic infertility; specifically, SNP variants c.80A>G and c.774C>T show significantly higher frequency in azoospermia and oligozoospermia patients compared to controls 1. TSSK2 dysfunction correlates with multiple infertility phenotypes including spermatogenic failure and oocyte maturation defects 5. Given its essential role in spermatogenesis, TSSK2 has been identified as a promising target for reversible male contraception, with potent selective inhibitors already developed 6.

Sources cited
1
TSSK2 is expressed predominantly in testis and SNP variants c.80A>G and c.774C>T are associated with spermatogenic impairment in humans
PMID: 19926886
2
TSSK2 and its substrate TSKS localize to centrioles during flagellogenesis and play an indispensable role during spermiogenesis
PMID: 18495105
3
TSSK2 is distributed in the post-acrosomal region of mouse sperm and equatorial region of human sperm, regulating sperm function
PMID: 22855445
4
Targeted deletion of Tssk2 results in dysregulation of spermiogenesis and infertility in mice
PMID: 23258646
5
TSSK2 gene expression is regulated in spermatogenesis and linked to male infertility conditions
PMID: 32046715
6
TSSK2 is a viable target for reversible male contraception with potent selective inhibitors identified
PMID: 28952188
Disease Associationsⓘ20
azoospermiaOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
Rare genetic female infertilityOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 3Open Targets
0.06Suggestive
spermatogenic failure 55Open Targets
0.06Suggestive
spermatogenic failure 26Open Targets
0.06Suggestive
spermatogenic failure 31Open Targets
0.06Suggestive
spermatogenic failure 53Open Targets
0.06Suggestive
spermatogenic failure 87Open Targets
0.06Suggestive
habitual abortionOpen Targets
0.06Suggestive
spermatogenic failure 23Open Targets
0.06Suggestive
spermatogenic failure 52Open Targets
0.06Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TSKSProtein interaction79%SPANXB1Shared pathway50%SPACDRShared pathway50%DPY19L2Shared pathway50%CCDC42Shared pathway50%CCDC159Shared pathway50%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
TSSK2TSKSSPANXB1SPACDRDPY19L2CCDC42CCDC159
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96PF2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF0.48 [0.29–0.81]
RankingsWhere TSSK2 stands among ~20K protein-coding genes
  • #13,342of 20,598
    Most Researched24
  • #6,744of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedTSSK2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment.
PMID: 19926886
J Androl · 2010
1.00
2
Effects of Qilin pills on spermatogenesis, reproductive hormones, oxidative stress, and the TSSK2 gene in a rat model of oligoasthenospermia.
PMID: 32046715
BMC Complement Med Ther · 2020
0.90
3
[Cloning and expression of Tssk1 & Tssk2 in mice and the presence & localization of them in mature sperm].
PMID: 22855445
Dongwuxue Yanjiu · 2012
0.80
4
Evolution of testis-specific kinases TSSK1B and TSSK2 in primates.
PMID: 23258646
Andrology · 2013
0.70
5
TSKS concentrates in spermatid centrioles during flagellogenesis.
PMID: 18495105
Dev Biol · 2008
0.60