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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. Gene Ontology (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

Additional gene information for SPINK2 Gene

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

Genomics for SPINK2 Gene

GeneHancer (GH) Regulatory Elements for SPINK2 Gene

Promoters and enhancers for SPINK2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J056821 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 667.5 +0.4 437 0.8 CTCF PKNOX1 ZNF2 ZNF664 ZNF335 CTBP1 ZNF366 POLR2A VEZF1 PRDM10 SPINK2 GC04M056819 ENSG00000251799
GH04J056822 Enhancer 0.4 ENCODE 650.7 +0.9 906 0.2 ZEB2 ZBTB26 EZH2 SPINK2 GC04M056819 ENSG00000251799
GH04J056465 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10 +355.0 355026 4.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B FOS SRP72 GC04M056462 AASDH PPAT PAICS SPINK2 ENSG00000251799 ARL9 GC04P056465
GH04J056652 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.9 +167.4 167384 5.3 CTCF MXI1 SUZ12 SIN3A FEZF1 ZIC2 YY1 ZNF335 GLIS2 ZNF366 HOPX AASDH SRP72 CEP135 POLR2B SPINK2 ENSG00000251799 ENSG00000280285 GC04P056642
GH04J056906 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.7 -86.8 -86800 4.6 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS MXD4 REST AASDH CEP135 NOA1 POLR2B SRP72 ENSG00000269949 SPINK2 ENSG00000251799 RNU6-998P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPINK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPINK2 gene promoter:
  • Brachyury
  • NRSF form 1
  • NRSF form 2

Genomic Locations for SPINK2 Gene

Genomic Locations for SPINK2 Gene
12,317 bases
Minus strand
11,883 bases
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:
    Recommended name:
    Serine protease inhibitor Kazal-type 2
    Protein Accession:
    Secondary Accessions:
    • Q6FGH2

    Protein attributes for SPINK2 Gene

    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

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

No data available for UniProtKB/Swiss-Prot for SPINK2 Gene

Function for SPINK2 Gene

Molecular function for SPINK2 Gene

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

Phenotypes From GWAS Catalog for SPINK2 Gene

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 IEA,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

Clone 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


Subcellular locations from

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 --
genes like me logo Genes that share ontologies with SPINK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPINK2 Gene

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:0010466 negative regulation of peptidase activity IEA --
GO:0060046 regulation of acrosome reaction IBA --
GO:1900004 negative regulation of serine-type endopeptidase activity IBA --
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

Drugs & Compounds for SPINK2 Gene

No Compound Related Data Available

Transcripts for SPINK2 Gene

Unigene Clusters for SPINK2 Gene

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

Clone Products

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

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

Relevant External Links for SPINK2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPINK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, MaxQB, and MOPED for SPINK2 Gene

Protein tissue co-expression partners for SPINK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPINK2 Gene:


SOURCE GeneReport for Unigene cluster for SPINK2 Gene:


mRNA Expression by UniProt/SwissProt for SPINK2 Gene:

Tissue specificity: Expressed in epididymis (at protein level).

Evidence on tissue expression from TISSUES for SPINK2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SPINK2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINK2 Gene

Orthologs for SPINK2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINK2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SPINK2 34 33
  • 98.61 (n)
(Canis familiaris)
Mammalia SPINK2 34 33
  • 83.08 (n)
(Bos Taurus)
Mammalia SPINK2 34 33
  • 80.68 (n)
(Mus musculus)
Mammalia Spink2 34
  • 53 (a)
(Gallus gallus)
Aves SPINK2 34
  • 51 (a)
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

Gene Tree for SPINK2 (if available)
Gene Tree for SPINK2 (if available)
Evolutionary constrained regions (ECRs) for SPINK2: view image

Paralogs for SPINK2 Gene

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

  • D6RC51_HUMAN
  • D6RI10_HUMAN
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 Variation AA Info Type
rs1000292979 -- 56,822,711(-) A/G upstream_transcript_variant
rs1000513280 -- 56,817,115(-) T/C intron_variant
rs1000615499 -- 56,821,370(-) G/C intron_variant, non_coding_transcript_variant
rs10007921 -- 56,815,434(-) T/A intron_variant
rs1000916461 -- 56,815,560(-) C/T 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)

Additional Variant Information for SPINK2 Gene

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

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

Disorders for SPINK2 Gene

Additional Disease Information for SPINK2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 PC (Proteins 2009) 3 4 22 58
  2. Organization and sequence of the gene encoding the human acrosin-trypsin inhibitor (HUSI-II). (PMID: 8428671) Möritz A … Fink E (Gene 1993) 2 3 4 58
  3. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4 58
  4. The SPINK gene family and celiac disease susceptibility. (PMID: 17333166) Wapenaar MC … Wijmenga C (Immunogenetics 2007) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SPINK2 Gene

Sources for SPINK2 Gene

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