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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TSSK1B
testis specific serine kinase 1B
Chromosome 5 · 5q22.2
NCBI Gene: 83942Ensembl: ENSG00000212122.4HGNC: HGNC:14968UniProt: A0ZT98
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindingprotein bindingATP bindingprotein serine/threonine kinase activitytype 2 diabetes mellitusmajor depressive disorderschizophreniaInguinal hernia
✦AI Summary

TSSK1B (testis-specific serine kinase 1B) is a calcium/calmodulin-dependent protein kinase essential for male reproductive function. During spermatogenesis, TSSK1B is expressed in elongating spermatids and functions in late-stage spermatid development, particularly in cytoplasmic reconstruction and transformation of ring-shaped structures at the flagellar base 1. The kinase domain has evolved under negative selection in primates, reflecting its critical functional importance 1. Beyond reproductive function, TSSK1B serves as a negative regulator of the Hippo-YAP pathway through the LKB1-TSSK1B axis, directly phosphorylating YAP at Ser94 to suppress oncogenic transformation and cellular proliferation 2. TSSK1B mutations are associated with male infertility phenotypes including asthenoteratozoospermia and azoospermia 34. Deletions encompassing TSSK1B correlate with reproductive impairment 4, and altered TSSK1B expression is identified as a potential biomarker for non-obstructive azoospermia 5. Recently, rare variants in TSSK1B have been associated with altered mean platelet volume in β-thalassemia patients 6. TSSK1B has emerged as a validated therapeutic target for male contraception 7.

Sources cited
1
TSSK1B mutations are associated with asthenoteratozoospermia, azoospermia, and teratozoospermia in male infertility patients
PMID: 35485285
2
TSSK1B is expressed in elongating spermatids, essential for male fertility, with kinase domain under negative selection in primates
PMID: 23258646
3
TSSK1B deletions impair reproductive capacity and cause asthenoteratozoospermia
PMID: 30733657
4
TSSK1B negatively regulates YAP through the LKB1-TSSK1B axis and TSSK1B-LATS1/2 axis, suppressing oncogenic transformation
PMID: 38245531
5
TSSK1B is identified as a potential biomarker gene for non-obstructive azoospermia and male infertility based on differential gene expression
PMID: 35173218
6
Rare missense variants in TSSK1B are associated with altered mean platelet volume in β-thalassemia patients
PMID: 39331630
7
TSSK1B is a validated target for male contraception
PMID: 36906820
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.07Suggestive
Inguinal herniaOpen Targets
0.05Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
inborn disorder of amino acid metabolismOpen Targets
0.04Suggestive
congenital heart diseaseOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
tooth diseaseOpen Targets
0.03Suggestive
response to radiationOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.02Suggestive
edemaOpen Targets
0.02Suggestive
HyperhidrosisOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
male infertilityOpen Targets
0.02Suggestive
systemic sclerodermaOpen Targets
0.02Suggestive
fibrosisOpen Targets
0.02Suggestive
sclerodermaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FNDC3AShared pathway100%OSBP2Shared pathway100%IQCNShared pathway100%SPANXB1Shared pathway100%SPACDRShared pathway100%DPY19L2Shared pathway100%
Tissue Expression6 tissues
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
TSSK1BFNDC3AOSBP2IQCNSPANXB1SPACDRDPY19L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BXA7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.71 [0.37–1.46]
RankingsWhere TSSK1B stands among ~20K protein-coding genes
  • #14,305of 20,598
    Most Researched20
  • #14,944of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedTSSK1B
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Role of testis‑specific serine kinase 1B in undiagnosed male infertility.
PMID: 35485285
Mol Med Rep · 2022
1.00
2
Evolution of testis-specific kinases TSSK1B and TSSK2 in primates.
PMID: 23258646
Andrology · 2013
0.88
3
Interstitial Deletion of 5q22.2q23.1 Including
PMID: 30733657
Mol Syndromol · 2019
0.75
4
The LKB1-TSSK1B axis controls YAP phosphorylation to regulate the Hippo-YAP pathway.
PMID: 38245531
Cell Death Dis · 2024
0.63
5
Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of β-thalassemia.
PMID: 39331630
Genomics Proteomics Bioinformatics · 2025
0.50