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    Spink2 serine peptidase inhibitor, Kazal type 2 [ Mus musculus (house mouse) ]

    Gene ID: 69982, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Spink2provided by MGI
    Official Full Name
    serine peptidase inhibitor, Kazal type 2provided by MGI
    Primary source
    MGI:MGI:1917232
    See related
    Ensembl:ENSMUSG00000053030 AllianceGenome:MGI:1917232
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HUSI-II; 1700007F22Rik
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Involved in acrosome assembly. Acts upstream of or within several processes, including male germ cell proliferation; negative regulation of serine-type endopeptidase activity; and seminiferous tubule development. Located in acrosomal vesicle and neuron projection. Is expressed in intestine; male reproductive gland or organ; oviduct; skin; and tongue. Human ortholog(s) of this gene implicated in spermatogenic failure 29. Orthologous to human SPINK2 (serine peptidase inhibitor Kazal type 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 405.6) See more
    Orthologs
    human all
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    Genomic context

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    See Spink2 in Genome Data Viewer
    Location:
    5 C3.3; 5 41.53 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (77352953..77364106, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (77205106..77216258, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13459 Neighboring gene STARR-seq mESC enhancer starr_13460 Neighboring gene predicted gene 15831 Neighboring gene VISTA enhancer mm770 Neighboring gene STARR-seq mESC enhancer starr_13461 Neighboring gene predicted gene, 34598 Neighboring gene STARR-seq mESC enhancer starr_13462 Neighboring gene STARR-positive B cell enhancer mm9_chr5:77666066-77666366 Neighboring gene predicted gene, 19060 Neighboring gene STARR-positive B cell enhancer ABC_E3585 Neighboring gene STARR-seq mESC enhancer starr_13466 Neighboring gene STARR-seq mESC enhancer starr_13469 Neighboring gene RE1-silencing transcription factor Neighboring gene microRNA 5098

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage. Dietz JA, et al. PLoS One, 2014. PMID 24699552, Free PMC Article
    2. Impaired spermatogenesis and fertility in mice carrying a mutation in the Spink2 gene expressed predominantly in testes. Lee B, et al. J Biol Chem, 2011 Aug 19. PMID 21705336, Free PMC Article
    3. SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. Kherraf ZE, et al. EMBO Mol Med, 2017 Aug. PMID 28554943, Free PMC Article
    4. The human (PEDB) and mouse (mPEDB) Prostate Expression Databases. Nelson PS, et al. Nucleic Acids Res, 2002 Jan 1. PMID 11752298, Free PMC Article
    5. The sperm-associated antigen 6 interactome and its role in spermatogenesis. Liu Y, et al. Reproduction, 2019 Aug. PMID 31146259, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of different variants of Spink2 in D407 tissue culture cells increases their susceptibility to the apoptosis-inducing agent staurosporine in a manner consistent with the differential susceptibility between the DBA/2J and BALB/cByJ strains
      Title: Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage.
    2. SPINK2 is required for maintaining normal spermatogenesis and potentially regulates serine protease-mediated apoptosis in male germ cells.
      Title: Impaired spermatogenesis and fertility in mice carrying a mutation in the Spink2 gene expressed predominantly in testes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107139

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acrosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within male germ cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within seminiferous tubule development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine protease inhibitor Kazal-type 2
    Names
    acrosin-trypsin inhibitor

    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_001289764.2 → NP_001276693.2  serine protease inhibitor Kazal-type 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the isoform 1.
      Source sequence(s)
      AC165975
      Conserved Domains (1) summary
      pfam00050
      Location:26 → 74
      Kazal_1; Kazal-type serine protease inhibitor domain

    2. NM_001289767.1 → NP_001276696.1  serine protease inhibitor Kazal-type 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC165975
      Consensus CDS
      CCDS80306.1
      UniProtKB/TrEMBL
      D3Z3X9
      Related
      ENSMUSP00000113823.2, ENSMUST00000121825.2
      Conserved Domains (1) summary
      pfam00050
      Location:11 → 59
      Kazal_1; Kazal-type serine protease inhibitor domain

    3. NM_001289768.1 → NP_001276697.1  serine protease inhibitor Kazal-type 2 isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and uses an alternate splice site in the central coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 4, which is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK005709, AV380723, DV068802
      Consensus CDS
      CCDS80307.1
      UniProtKB/TrEMBL
      D3YTY0
      Related
      ENSMUSP00000112806.2, ENSMUST00000120429.8

    4. NM_183284.3 → NP_899107.1  serine protease inhibitor Kazal-type 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_899107.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK005709, AV380723, DV068802
      Consensus CDS
      CCDS39121.1
      UniProtKB/Swiss-Prot
      D3Z3X9, Q5M8S4, Q8BMY7
      Related
      ENSMUSP00000067117.5, ENSMUST00000065216.11
      Conserved Domains (1) summary
      pfam00050
      Location:38 → 86
      Kazal_1; Kazal-type serine protease inhibitor domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      77352953..77364106 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249564.4 → XP_011247866.1  serine protease inhibitor Kazal-type 2 isoform X1

      Conserved Domains (1) summary
      pfam00050
      Location:40 → 88
      Kazal_1; Kazal-type serine protease inhibitor domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BMY7.1 GenPept UniProtKB/Swiss-Prot:Q8BMY7

    Gene LinkOut

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

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