TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] See more...

Aliases for TSSK2 Gene

Aliases for TSSK2 Gene

  • Testis Specific Serine Kinase 2 2 3 5
  • SPOGA2 2 3 4
  • Serine/Threonine Kinase 22B (Spermiogenesis Associated) 2 3
  • Testis-Specific Serine/Threonine-Protein Kinase 2 3 4
  • Serine/Threonine-Protein Kinase 22B 3 4
  • DiGeorge Syndrome Protein G 3 4
  • Testis-Specific Kinase 2 3 4
  • EC 2.7.11.1 4 51
  • STK22B 3 4
  • TSSK-2 3 4
  • DGS-G 3 4
  • TSK-2 3 4
  • TSK2 3 4
  • Testis Specific Serine Threonine Kinase 2 3
  • Testicular Secretory Protein Li 61 3
  • Spermiogenesis Associated 2 3
  • EC 2.7.11 51
  • FLJ38613 2
  • TSSK2 5
  • DGSG 4

External Ids for TSSK2 Gene

Previous HGNC Symbols for TSSK2 Gene

  • STK22B

Previous GeneCards Identifiers for TSSK2 Gene

  • GC22P017495
  • GC22P017497
  • GC22P017500
  • GC22P017502
  • GC22P017504
  • GC22P017507
  • GC22P017509
  • GC22P019118
  • GC22P002739
  • GC22P019130

Summaries for TSSK2 Gene

Entrez Gene Summary for TSSK2 Gene

  • TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

GeneCards Summary for TSSK2 Gene

TSSK2 (Testis Specific Serine Kinase 2) is a Protein Coding gene. Diseases associated with TSSK2 include Combined D-2- And L-2-Hydroxyglutaric Aciduria and Hyperprolinemia, Type I. Among its related pathways are Sweet Taste Signaling and Transcription_CREM signaling in testis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TSSK1B.

UniProtKB/Swiss-Prot Summary for TSSK2 Gene

  • Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at 'Ser-288' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body.

Gene Wiki entry for TSSK2 Gene

Additional gene information for TSSK2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSSK2 Gene

Genomics for TSSK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TSSK2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSSK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSSK2

Top Transcription factor binding sites by QIAGEN in the TSSK2 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • Egr-4
  • FOXO3
  • HTF
  • IRF-1
  • NCX
  • NF-1
  • NF-1/L

Genomic Locations for TSSK2 Gene

Genomic Locations for TSSK2 Gene
chr22:19,131,308-19,132,622
(GRCh38/hg38)
Size:
1,315 bases
Orientation:
Plus strand
chr22:19,118,321-19,120,136
(GRCh37/hg19)
Size:
1,816 bases
Orientation:
Plus strand

Genomic View for TSSK2 Gene

Genes around TSSK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSSK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSSK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSSK2 Gene

Proteins for TSSK2 Gene

  • Protein details for TSSK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PF2-TSSK2_HUMAN
    Recommended name:
    Testis-specific serine/threonine-protein kinase 2
    Protein Accession:
    Q96PF2
    Secondary Accessions:
    • Q8IY55

    Protein attributes for TSSK2 Gene

    Size:
    358 amino acids
    Molecular mass:
    40939 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with TSSK1B. Interacts with HSP90; this interaction stabilizes TSSK2 (By similarity).
    Miscellaneous:
    • TSSK1B might be used as a target for male contraception or and intra-vaginal spermicides.

neXtProt entry for TSSK2 Gene

Selected DME Specific Peptides for TSSK2 Gene

Q96PF2:
  • NLLLDKDFNIKLSDF
  • SIIKTYEIFETS
  • LRIQKEHRV
  • KYCHDLD
  • LSHSWLQ
  • WSLGVILY
  • DTKTGLR
  • IPYQPKVYDIWSLGVILYIMVCGSMPYDDS
  • LSKTFCGSAAYAAPEV
  • IVHRDLK

Post-translational modifications for TSSK2 Gene

Other Protein References for TSSK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TSSK2 Gene

Gene Families for TSSK2 Gene

Protein Domains for TSSK2 Gene

Suggested Antigen Peptide Sequences for TSSK2 Gene

GenScript: Design optimal peptide antigens:
  • Testis-specific serine kinase 2 (A0ZT99_HUMAN)
  • Serine/threonine-protein kinase 22B (TSSK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PF2

UniProtKB/Swiss-Prot:

TSSK2_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with TSSK2: view

Function for TSSK2 Gene

Molecular function for TSSK2 Gene

UniProtKB/Swiss-Prot Function:
Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at 'Ser-288' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:20729278};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:20729278};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10 uM for ATP {ECO:0000269|PubMed:20729278};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation on Thr-174, potentially by autophosphorylation.

Enzyme Numbers (IUBMB) for TSSK2 Gene

Phenotypes From GWAS Catalog for TSSK2 Gene

Gene Ontology (GO) - Molecular Function for TSSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA,ISS --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,ISS --
GO:0005515 protein binding IPI 15044604
genes like me logo Genes that share ontologies with TSSK2: view
genes like me logo Genes that share phenotypes with TSSK2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSSK2

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TSSK2 Gene

Localization for TSSK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSSK2 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Present in the cytoplasm of elongating spermatids. In spermatozoa, localizes in the equatorial segment, neck, the midpiece and in a specific sperm head compartment (By similarity). In spermatids, concentrates in centrioles during flagellogenesis. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSSK2 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3
extracellular 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for TSSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA,ISS --
GO:0005814 centriole IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TSSK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSSK2 Gene

Pathways & Interactions for TSSK2 Gene

PathCards logo

SuperPathways for TSSK2 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.37
2 Transcription_CREM signaling in testis
-
genes like me logo Genes that share pathways with TSSK2: view

Pathways by source for TSSK2 Gene

1 GeneGo (Thomson Reuters) pathway for TSSK2 Gene
  • Transcription_CREM signaling in testis
1 Qiagen pathway for TSSK2 Gene
  • Sperm Motility

Gene Ontology (GO) - Biological Process for TSSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation ISS --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007286 spermatid development ISS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with TSSK2: view

No data available for SIGNOR curated interactions for TSSK2 Gene

Drugs & Compounds for TSSK2 Gene

(2) Drugs for TSSK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for TSSK2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with TSSK2: view

Transcripts for TSSK2 Gene

mRNA/cDNA for TSSK2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSSK2

Alternative Splicing Database (ASD) splice patterns (SP) for TSSK2 Gene

No ASD Table

Relevant External Links for TSSK2 Gene

GeneLoc Exon Structure for
TSSK2

Expression for TSSK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSSK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for TSSK2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TSSK2 Gene



Protein tissue co-expression partners for TSSK2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSSK2

SOURCE GeneReport for Unigene cluster for TSSK2 Gene:

Hs.694070

mRNA Expression by UniProt/SwissProt for TSSK2 Gene:

Q96PF2-TSSK2_HUMAN
Tissue specificity: Testis-specific. Present in mature spermatozoa (at protein level).
genes like me logo Genes that share expression patterns with TSSK2: view

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSSK2 Gene

Orthologs for TSSK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TSSK2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TSSK2 30 31
  • 99.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tssk2 30
  • 89.48 (n)
Mouse
(Mus musculus)
Mammalia Tssk2 30 17 31
  • 89.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TSSK2 30 31
  • 89.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TSSK2 31
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TSSK2 30 31
  • 86.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TSSK2 31
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 72 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4797 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008765 30
  • 53.21 (n)
Worm
(Caenorhabditis elegans)
Secernentea tag-344 31
  • 30 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIN4 31
  • 14 (a)
ManyToMany
FRK1 31
  • 13 (a)
ManyToMany
-- 31
  • 11 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4544 31
  • 50 (a)
OneToMany
Species where no ortholog for TSSK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for TSSK2 Gene

ENSEMBL:
Gene Tree for TSSK2 (if available)
TreeFam:
Gene Tree for TSSK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSSK2: view image

Paralogs for TSSK2 Gene

(24) SIMAP similar genes for TSSK2 Gene using alignment to 2 proteins:

  • TSSK2_HUMAN
  • A0ZT99_HUMAN
genes like me logo Genes that share paralogs with TSSK2: view

Variants for TSSK2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSSK2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1052763 - p.Thr280Met
rs35048893 - p.Glu244Lys
rs35532431 - p.Met61Val
rs3747052 - p.Lys27Arg
rs56279111 - p.Tyr197Cys

Additional dbSNP identifiers (rs#s) for TSSK2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TSSK2 Gene

Variant ID Type Subtype PubMed ID
esv3575418 CNV gain 25503493
nsv1056141 CNV gain 25217958
nsv588213 CNV gain 21841781
nsv588216 CNV gain 21841781
nsv834122 CNV loss 17160897
nsv953022 CNV deletion 24416366

Variation tolerance for TSSK2 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.32; 85.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSSK2 Gene

Human Gene Mutation Database (HGMD)
TSSK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSSK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSSK2 Gene

Disorders for TSSK2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TSSK2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
combined d-2- and l-2-hydroxyglutaric aciduria
  • d2l2ad
hyperprolinemia, type i
  • hyrpro1
van den ende-gupta syndrome
  • vdegs
digeorge syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TSSK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TSSK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TSSK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSSK2 Gene

Publications for TSSK2 Gene

  1. Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment. (PMID: 19926886) Zhang H … Zhang S (Journal of andrology 2010) 3 4 41
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  3. Expression and localization of five members of the testis-specific serine kinase (Tssk) family in mouse and human sperm and testis. (PMID: 20729278) Li Y … Salicioni AM (Molecular human reproduction 2011) 3 4
  4. Targeted deletion of Tssk1 and 2 causes male infertility due to haploinsufficiency. (PMID: 18533145) Xu B … Herr JC (Developmental biology 2008) 3 4
  5. Validation of a testis specific serine/threonine kinase [TSSK] family and the substrate of TSSK1 & 2, TSKS, as contraceptive targets. (PMID: 17566264) Xu B … Herr JC (Society of Reproduction and Fertility supplement 2007) 4 23

Products for TSSK2 Gene

Sources for TSSK2 Gene