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Aliases for SPINK2 Gene

Aliases for SPINK2 Gene

  • Serine Peptidase Inhibitor, Kazal Type 2 2 3 5
  • Serine Peptidase Inhibitor, Kazal Type 2 (Acrosin-Trypsin Inhibitor) 2 3
  • Epididymis Tissue Protein Li 172 3 4
  • Acrosin-Trypsin Inhibitor 2 4
  • HUSI-II 3 4
  • Serine Protease Inhibitor, Kazal Type 2 (Acrosin-Trypsin Inhibitor) 2
  • Serine Protease Inhibitor Kazal-Type 2 3

External Ids for SPINK2 Gene

Previous GeneCards Identifiers for SPINK2 Gene

  • GC04M057479
  • GC04M057637
  • GC04M057591
  • GC04M057516
  • GC04M057370
  • GC04M057676
  • GC04M053629

Summaries for SPINK2 Gene

Entrez Gene Summary for SPINK2 Gene

  • 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]

GeneCards Summary for SPINK2 Gene

SPINK2 (Serine Peptidase Inhibitor, Kazal Type 2) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK2 Gene

  • Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin.

Gene Wiki entry for SPINK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK2 Gene

Genomics for SPINK2 Gene

Regulatory Elements for SPINK2 Gene

Enhancers for SPINK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F056799 1.1 Ensembl ENCODE 12.9 +22.0 22043 1.5 ATF1 TBL1XR1 WRNIP1 ZNF48 RAD21 YY1 GATA2 ZNF143 CREM ZNF654 SPINK2 PAICS PPAT NOA1 POLR2B SRP72 REST ENSG00000269949 GC04P056807 LOC105377668
GH04F056544 1.3 Ensembl ENCODE 10.8 +277.4 277382 1.2 CREB3L1 ARID4B DMAP1 ZNF2 ZNF143 ZNF207 SP3 MXD4 REST SMARCB1 SPINK2 ENSG00000251799 AASDH ARL9 THEGL GLDCP1
GH04F056385 1.4 FANTOM5 ENCODE 8.9 +434.1 434082 4.3 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SRP72 AASDH CEP135 IGFBP7 NOA1 RPL7AP31 SPINK2 ENSG00000251799 ENSG00000269921
GH04F056821 0.7 ENCODE 17.5 +0.4 437 0.8 CTCF MAZ PKNOX1 SP3 SP2 ZEB2 ZNF2 ZNF664 CTBP1 POLR2A SPINK2 ENSG00000251799 GC04M056819
GH04F056465 1.1 ENCODE 10 +355.0 355026 4.3 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 YY1 FOS SP3 SP5 NFYC SRP72 AASDH PPAT PAICS NOA1 ENSG00000251799 SPINK2 RPL7AP31 ARL9 GC04M056462
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPINK2 on UCSC Golden Path with GeneCards custom track

Promoters for SPINK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001859875 376 800 CTCF PKNOX1 ZNF2 ZNF664 CTBP1 POLR2A ZNF366 PRDM10 ZNF600 SP3

Genomic Location for SPINK2 Gene

Chromosome:
4
Start:
56,809,860 bp from pter
End:
56,822,176 bp from pter
Size:
12,317 bases
Orientation:
Minus strand

Genomic View for SPINK2 Gene

Genes around SPINK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK2 Gene

Proteins for SPINK2 Gene

  • Protein details for SPINK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20155-ISK2_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 2
    Protein Accession:
    P20155
    Secondary Accessions:
    • Q6FGH2

    Protein attributes for SPINK2 Gene

    Size:
    84 amino acids
    Molecular mass:
    9291 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SPINK2 Gene

neXtProt entry for SPINK2 Gene

Post-translational modifications for SPINK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPINK2 Gene

Domains & Families for SPINK2 Gene

Gene Families for SPINK2 Gene

Protein Domains for SPINK2 Gene

Suggested Antigen Peptide Sequences for SPINK2 Gene

Graphical View of Domain Structure for InterPro Entry

P20155

UniProtKB/Swiss-Prot:

ISK2_HUMAN :
  • Contains 1 Kazal-like domain.
Domain:
  • Contains 1 Kazal-like domain.
genes like me logo Genes that share domains with SPINK2: view

Function for SPINK2 Gene

Molecular function for SPINK2 Gene

GENATLAS Biochemistry:
serine protease inhibitor,Kazal type 2 (acrosin-trypsin inhibitor)
UniProtKB/Swiss-Prot Function:
Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin.

Gene Ontology (GO) - Molecular Function for SPINK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 8428671
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK2: view
genes like me logo Genes that share phenotypes with SPINK2: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK2 Gene

Localization for SPINK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK2 Gene

Secreted.

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 SPINK2 gene
Compartment Confidence
extracellular 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPINK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with SPINK2: view

Pathways & Interactions for SPINK2 Gene

SuperPathways for SPINK2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPINK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002176 male germ cell proliferation IEA --
GO:0007283 spermatogenesis IEA --
GO:0007286 spermatid development IEA --
GO:0008584 male gonad development IEA --
GO:0009566 fertilization IEA --
genes like me logo Genes that share ontologies with SPINK2: view

No data available for Pathways by source and SIGNOR curated interactions for SPINK2 Gene

Transcripts for SPINK2 Gene

Unigene Clusters for SPINK2 Gene

Serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1:
SP2: - -
SP3: -

Relevant External Links for SPINK2 Gene

GeneLoc Exon Structure for
SPINK2
ECgene alternative splicing isoforms for
SPINK2

Expression for SPINK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPINK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINK2 Gene

This gene is overexpressed in Testis (x46.3).

Protein differential expression in normal tissues from HIPED for SPINK2 Gene

This gene is overexpressed in Testis (41.2), Ovary (10.9), Seminal vesicle (10.5), and Prostate (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPINK2 Gene



Protein tissue co-expression partners for SPINK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPINK2 Gene:

SPINK2

SOURCE GeneReport for Unigene cluster for SPINK2 Gene:

Hs.98243

mRNA Expression by UniProt/SwissProt for SPINK2 Gene:

P20155-ISK2_HUMAN
Tissue specificity: Expressed in epididymis (at protein level).
genes like me logo Genes that share expression patterns with SPINK2: view

Primer Products

Orthologs for SPINK2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK2 34 35
  • 98.61 (n)
dog
(Canis familiaris)
Mammalia SPINK2 34 35
  • 83.08 (n)
cow
(Bos Taurus)
Mammalia SPINK2 34 35
  • 80.68 (n)
mouse
(Mus musculus)
Mammalia Spink2 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPINK2 35
  • 51 (a)
OneToOne
Species where no ortholog for SPINK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPINK2 Gene

ENSEMBL:
Gene Tree for SPINK2 (if available)
TreeFam:
Gene Tree for SPINK2 (if available)

Paralogs for SPINK2 Gene

(7) SIMAP similar genes for SPINK2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SPINK2: view

No data available for Paralogs for SPINK2 Gene

Variants for SPINK2 Gene

Sequence variations from dbSNP and Humsavar for SPINK2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10007921 -- 56,815,434(+) ggggc(A/T)catgc intron-variant
rs10015630 -- 56,812,976(+) TCTCC(A/G)CTCTC intron-variant
rs10024887 -- 56,821,772(+) cgaga(A/G)tggga nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs10024985 -- 56,821,867(+) ACCGG(A/G)AAGGG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs11133460 -- 56,819,234(+) GTATA(C/T)ATATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPINK2 Gene

Variant ID Type Subtype PubMed ID
dgv5214n100 CNV gain 25217958
nsv1161088 CNV duplication 26073780

Variation tolerance for SPINK2 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.93; 83.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPINK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK2 Gene

Disorders for SPINK2 Gene

Relevant External Links for SPINK2

Genetic Association Database (GAD)
SPINK2
Human Genome Epidemiology (HuGE) Navigator
SPINK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPINK2

No disorders were found for SPINK2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINK2 Gene

Publications for SPINK2 Gene

  1. Identification of trypsin-inhibitory site and structure determination of human SPINK2 serine proteinase inhibitor. (PMID: 19422058) Chen T. … Lyu P.-C. (Proteins 2009) 3 4 22 64
  2. Organization and sequence of the gene encoding the human acrosin- trypsin inhibitor (HUSI-II). (PMID: 8428671) Moeritz A. … Fink E. (Gene 1993) 2 3 4 64
  3. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J. … Liu Y. (Mol. Cell. Proteomics 2010) 3 4 64
  4. The SPINK gene family and celiac disease susceptibility. (PMID: 17333166) Wapenaar M.C. … Wijmenga C. (Immunogenetics 2007) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SPINK2 Gene

Sources for SPINK2 Gene

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