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    TSSK2 testis specific serine kinase 2 [ Homo sapiens (human) ]

    Gene ID: 23617, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TSSK2provided by HGNC
    Official Full Name
    testis specific serine kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:11401
    See related
    Ensembl:ENSG00000206203 MIM:610710; AllianceGenome:HGNC:11401
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TSK2; DGS-G; SPOGA2; STK22B
    Summary
    TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]
    Orthologs
    mouse all
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    Genomic context

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    See TSSK2 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19131308..19132622)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19505922..19507236)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19118821..19120135)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DiGeorge syndrome critical region gene 2 Neighboring gene uncharacterized LOC124905078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19093647-19094147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19097371-19097873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19097874-19098375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19101726-19102620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:19109284-19109785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13454 Neighboring gene testis specific serine kinase 1A (pseudogene) Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62558 Neighboring gene uncharacterized LOC112268297 Neighboring gene ess-2 splicing factor homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19131233-19131739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19136757-19137256 Neighboring gene goosecoid homeobox 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment. Zhang H, et al. J Androl, 2010 Jul-Aug. PMID 19926886
    2. Recombinant production of enzymatically active male contraceptive drug target hTSSK2 - Localization of the TSKS domain phosphorylated by TSSK2. Shetty J, et al. Protein Expr Purif, 2016 May. PMID 26777341, Free PMC Article
    3. Evolution of testis-specific kinases TSSK1B and TSSK2 in primates. Shang P, et al. Andrology, 2013 Jan. PMID 23258646
    4. A novel family of serine/threonine kinases participating in spermiogenesis. Kueng P, et al. J Cell Biol, 1997 Dec 29. PMID 9412477, Free PMC Article
    5. Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm. Hao Z, et al. Mol Hum Reprod, 2004 Jun. PMID 15044604

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. n vitro phosphorylation experiments carried out with TSKS (isoform 1) fragments revealed particularly strong phosphorylation of a recombinant N-terminal region representing aa 1-150 of TSKS, indicating that the N-terminus of human TSKS is phosphorylated by human TSSK2.
      Title: Recombinant production of enzymatically active male contraceptive drug target hTSSK2 - Localization of the TSKS domain phosphorylated by TSSK2.
    2. Report evolution of testis-specific kinases TSSK1B and TSSK2 in primates.
      Title: Evolution of testis-specific kinases TSSK1B and TSSK2 in primates.
    3. associated with male idiopathic infertility
      Title: Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment.
    5. Data show that human testis-specific serine/threonine (Ser/Thr) kinase (TSSK) 1 and 2 messages are expressed exclusively in the testis and suggest that this family of kinases might play a role in sperm function.
      Title: Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu In vitro protein-protein interaction analysis identifies a Vpu-binding host protein testis-specific serine kinase 2 (TSSK2) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38613

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    testis-specific serine/threonine-protein kinase 2
    Names
    TSK-2
    TSSK-2
    diGeorge syndrome protein G
    serine/threonine kinase 22B (spermiogenesis associated)
    serine/threonine-protein kinase 22B
    spermiogenesis associated 2
    testicular secretory protein Li 61
    testis specific serine threonine kinase 2
    testis-specific kinase 2
    NP_443732.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_053006.5 → NP_443732.3  testis-specific serine/threonine-protein kinase 2

      See identical proteins and their annotated locations for NP_443732.3

      Status: VALIDATED

      Source sequence(s)
      BC037781, L77564
      Consensus CDS
      CCDS13755.1
      UniProtKB/Swiss-Prot
      Q8IY55, Q96PF2
      UniProtKB/TrEMBL
      A0ZT99
      Related
      ENSP00000382544.2, ENST00000399635.4
      Conserved Domains (2) summary
      smart00220
      Location:12 → 272
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14165
      Location:10 → 272
      STKc_TSSK1_2-like; Catalytic domain of testis-specific serine/threonine kinase 1, TSSK2, and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      19131308..19132622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19505922..19507236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PF2.2 GenPept UniProtKB/Swiss-Prot:Q96PF2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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