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SPINK2 serine peptidase inhibitor Kazal type 2 [ Homo sapiens (human) ]

Gene ID: 6691, updated on 14-Nov-2024

Summary

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Official Symbol
SPINK2provided by HGNC
Official Full Name
serine peptidase inhibitor Kazal type 2provided by HGNC
Primary source
HGNC:HGNC:11245
See related
Ensembl:ENSG00000128040 MIM:605753; AllianceGenome:HGNC:11245
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPGF29; HUSI-II
Summary
This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression
Restricted expression toward testis (RPKM 57.3) See more
Orthologs
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Genomic context

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See SPINK2 in Genome Data Viewer
Location:
4q12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56809860..56821869, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60297771..60309781, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57676026..57688035, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15454 Neighboring gene RNA, 7SL, cytoplasmic 357, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15455 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:57710833-57711338 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:57711339-57711844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:57714899-57715398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21585 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:57773523-57774452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57775383-57776312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:57780934-57781434 Neighboring gene RE1 silencing transcription factor Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:57802865-57804064 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:57831417-57831519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21587 Neighboring gene nitric oxide associated 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
    Title: SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
  2. Investigated whether tazarotene-induced gene 1 protein (TIG1) affects the activity of urokinase plasminogen-type activator, which is negatively regulated by serine peptidase inhibitor Kazal type 2 (SPINK2), potentially preventing epithelial mesenchymal transition and suppressing cell migration and invasion.
    Title: Tazarotene-Induced Gene 1 (TIG1) Interacts with Serine Protease Inhibitor Kazal-Type 2 (SPINK2) to Inhibit Cellular Invasion of Testicular Carcinoma Cells.
  3. These results demonstrate that SPINK2 is necessary to neutralize proteases during their cellular transit toward the acrosome and that its deficiency induces a pathological continuum ranging from oligoasthenoteratozoospermia in heterozygotes to azoospermia in homozygotes.
    Title: SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
  4. Data showed that the expression level of SPINK2 is significantly elevated in most leukemia cell lines except B-lymphoblast TK-6 cells. Data demonstrated that Arg(24) at the P1 site is crucial for the specificity of SPINK2 on target enzyme.
    Title: Identification of trypsin-inhibitory site and structure determination of human SPINK2 serine proteinase inhibitor.
  5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: The SPINK gene family and celiac disease susceptibility.
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

Associated conditions

Description Tests
Spermatogenic failure 29
MedGen: C4748142 OMIM: 618091 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
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 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 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 extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serine protease inhibitor Kazal-type 2
Names
epididymis tissue protein Li 172
serine peptidase inhibitor, Kazal type 2 (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_001271718.2 → NP_001258647.1  serine protease inhibitor Kazal-type 2 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AA973772, BI561149, BI562269, HY028205
    Consensus CDS
    CCDS63971.1
    UniProtKB/TrEMBL
    D6RI10
    Related
    ENSP00000425961.1, ENST00000506738.6
    Conserved Domains (1) summary
    pfam00050
    Location:86 → 134
    Kazal_1; Kazal-type serine protease inhibitor domain

  2. NM_001271719.2 → NP_001258648.1  serine protease inhibitor Kazal-type 2 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 3 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BI520020, BI561149

  3. NM_001271720.2 → NP_001258649.1  serine protease inhibitor Kazal-type 2 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.
    Source sequence(s)
    AA973772, BU853655, HY043430
    Consensus CDS
    CCDS63972.1
    UniProtKB/TrEMBL
    D6RC51
    Related
    ENSP00000423858.1, ENST00000504762.1
    Conserved Domains (1) summary
    pfam00050
    Location:71 → 119
    Kazal_1; Kazal-type serine protease inhibitor domain

  4. NM_001271721.2 → NP_001258650.1  serine protease inhibitor Kazal-type 2 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate splice sites in the 5' coding region which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 5 which has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA776754, BC022514, HY043430, HY055610
    UniProtKB/Swiss-Prot
    P20155

  5. NM_001271722.2 → NP_001258651.1  serine protease inhibitor Kazal-type 2 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two exons in the coding region which results in a frameshift, compared to variant 1. It encodes isoform 6 which has a distinct C-terminus and is the same length as isoform 1.
    Source sequence(s)
    BC022514, BF589674, HY043430
    Consensus CDS
    CCDS75128.1
    UniProtKB/TrEMBL
    A0A087WTA9
    Related
    ENSP00000477722.1, ENST00000618802.3

  6. NM_021114.4 → NP_066937.1  serine protease inhibitor Kazal-type 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_066937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1
    Source sequence(s)
    BC022514
    Consensus CDS
    CCDS3508.1
    UniProtKB/Swiss-Prot
    P20155, Q6FGH2
    Related
    ENSP00000248701.4, ENST00000248701.8
    Conserved Domains (1) summary
    pfam00050
    Location:36 → 84
    Kazal_1; Kazal-type serine protease inhibitor domain

RNA

  1. NR_073417.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC022483, AW592089, BC022514

  2. NR_073418.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA973772, AC022483, AV743457, BC022514, DB451710, HY028205

  3. NR_073419.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC022483, BC022514, HY020998

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    56809860..56821869 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    60297771..60309781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20155.2 GenPept UniProtKB/Swiss-Prot:P20155

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