The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010] See more...

Aliases for SPINK6 Gene

Aliases for SPINK6 Gene

  • Serine Peptidase Inhibitor Kazal Type 6 2 3
  • Serine Protease Inhibitor Kazal-Type 6 3 4
  • Kallikrein Inhibitor 3 4
  • Protease Inhibitor H 2 3
  • Serine Peptidase Inhibitor, Kazal Type 6 5
  • Serine Protease Inhibitor, Kazal Type 6 2
  • Acrosin Inhibitor 3
  • UNQ844 3
  • BUSI2 3

External Ids for SPINK6 Gene

Previous GeneCards Identifiers for SPINK6 Gene

  • GC05P147564
  • GC05P142729

Summaries for SPINK6 Gene

Entrez Gene Summary for SPINK6 Gene

  • The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010]

GeneCards Summary for SPINK6 Gene

SPINK6 (Serine Peptidase Inhibitor Kazal Type 6) is a Protein Coding gene. Diseases associated with SPINK6 include Pompholyx. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SPINK5.

UniProtKB/Swiss-Prot Summary for SPINK6 Gene

  • Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8.

Additional gene information for SPINK6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPINK6 Gene

Genomics for SPINK6 Gene

GeneHancer (GH) Regulatory Elements for SPINK6 Gene

Promoters and enhancers for SPINK6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J148202 Promoter/Enhancer 0.7 EPDnew ENCODE 522.5 +0.1 64 0.9 CREB1 FOS SPINK6 piR-40666-004 lnc-HTR4-4 HMGN1P16 ENSG00000247199
GH05J148201 Enhancer 0.2 FANTOM5 500.7 -1.4 -1439 0.1 SPINK6 piR-40666-004 FBXO38 JAKMIP2 SPINK14 ENSG00000247199
GH05J148185 Enhancer 1 FANTOM5 Ensembl ENCODE 22.7 -15.5 -15493 4.2 POLR2A CEBPG FOS CEBPB SPI1 NR2F2 JUND STAT3 EP300 GATA2 SPINK6 FBXO38 ENSG00000247199 SPINK7 SPINK9 piR-40666-004 SPINK14
GH05J148145 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 14.5 -56.2 -56209 3.2 ZNF217 KDM6A TCF7 TEAD1 GATAD2B CTBP1 FOXA2 ZSCAN9 SIN3A MBD2 lnc-SPINK5-3 SPINK14 SPINK6 SPINK7 ABLIM3 SPINK5 ENSG00000247199
GH05J148205 Enhancer 0.8 FANTOM5 Ensembl 23.1 +4.4 4407 5.6 RBM25 ZBTB33 JUND FOXA1 RXRA MAX HNF4A REST MAFK HNF4G SPINK6 SPINK7 SPINK14 SPINK9 SPINK13 FBXO38 ENSG00000272411 SPINK5 lnc-HTR4-4 HMGN1P16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPINK6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPINK6

Top Transcription factor binding sites by QIAGEN in the SPINK6 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • IRF-7A
  • JunB
  • JunD
  • Sox5

Genomic Locations for SPINK6 Gene

Genomic Locations for SPINK6 Gene
chr5:148,202,794-148,215,137
(GRCh38/hg38)
Size:
12,344 bases
Orientation:
Plus strand
chr5:147,582,357-147,594,700
(GRCh37/hg19)
Size:
12,344 bases
Orientation:
Plus strand

Genomic View for SPINK6 Gene

Genes around SPINK6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINK6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK6 Gene

Proteins for SPINK6 Gene

  • Protein details for SPINK6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWN8-ISK6_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 6
    Protein Accession:
    Q6UWN8
    Secondary Accessions:
    • E0X656
    • Q8N5P0

    Protein attributes for SPINK6 Gene

    Size:
    80 amino acids
    Molecular mass:
    8585 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SPINK6 Gene

neXtProt entry for SPINK6 Gene

Post-translational modifications for SPINK6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPINK6 Gene

No data available for DME Specific Peptides for SPINK6 Gene

Domains & Families for SPINK6 Gene

Gene Families for SPINK6 Gene

Protein Domains for SPINK6 Gene

Blocks:
  • Kazal-type serine protease inhibitor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPINK6 Gene

GenScript: Design optimal peptide antigens:
  • Serine peptidase inhibitor, Kazal type 6, isoform CRA_a (E0X656_HUMAN)
  • Serine protease inhibitor Kazal-type 6 (ISK6_HUMAN)
genes like me logo Genes that share domains with SPINK6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPINK6 Gene

Function for SPINK6 Gene

Molecular function for SPINK6 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8.

Phenotypes From GWAS Catalog for SPINK6 Gene

Gene Ontology (GO) - Molecular Function for SPINK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK6: view
genes like me logo Genes that share phenotypes with SPINK6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SPINK6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK6 Gene

Localization for SPINK6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK6 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 SPINK6 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for SPINK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with SPINK6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPINK6 Gene

Pathways & Interactions for SPINK6 Gene

PathCards logo

SuperPathways for SPINK6 Gene

genes like me logo Genes that share pathways with SPINK6: view

Pathways by source for SPINK6 Gene

Interacting Proteins for SPINK6 Gene

;

Gene Ontology (GO) - Biological Process for SPINK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IBA 21873635
GO:0007417 central nervous system development IBA 21873635
GO:0010466 negative regulation of peptidase activity IEA --
GO:0030154 cell differentiation IBA 21873635
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with SPINK6: view

No data available for SIGNOR curated interactions for SPINK6 Gene

Drugs & Compounds for SPINK6 Gene

(1) Drugs for SPINK6 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Leucine - Reduced Carbonyl Experimental Pharma Target 0
genes like me logo Genes that share compounds with SPINK6: view

Transcripts for SPINK6 Gene

mRNA/cDNA for SPINK6 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK6 Gene

No ASD Table

Relevant External Links for SPINK6 Gene

GeneLoc Exon Structure for
SPINK6

Expression for SPINK6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPINK6 Gene

mRNA differential expression in normal tissues according to GTEx for SPINK6 Gene

This gene is overexpressed in Brain - Cerebellum (x10.9), Colon - Sigmoid (x8.0), Vagina (x7.8), Cervix - Ectocervix (x7.6), Minor Salivary Gland (x5.6), and Brain - Cerebellar Hemisphere (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPINK6

SOURCE GeneReport for Unigene cluster for SPINK6 Gene:

Hs.334274

Evidence on tissue expression from TISSUES for SPINK6 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with SPINK6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINK6 Gene

Orthologs for SPINK6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINK6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK6 31 30
  • 99.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPINK6 31
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPINK6 31
  • 60 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPINK6 31
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spink6 31
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPINK6 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPINK6 31
  • 39 (a)
OneToOne
Species where no ortholog for SPINK6 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 SPINK6 Gene

ENSEMBL:
Gene Tree for SPINK6 (if available)
TreeFam:
Gene Tree for SPINK6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPINK6: view image

Paralogs for SPINK6 Gene

Paralogs for SPINK6 Gene

(7) SIMAP similar genes for SPINK6 Gene using alignment to 2 proteins:

  • ISK6_HUMAN
  • D6RGX9_HUMAN
genes like me logo Genes that share paralogs with SPINK6: view

Variants for SPINK6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPINK6 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs12186491 - p.Pro36Thr

Additional dbSNP identifiers (rs#s) for SPINK6 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPINK6 Gene

Variant ID Type Subtype PubMed ID
esv1643002 CNV insertion 17803354
esv2730896 CNV deletion 23290073
esv3342088 CNV insertion 20981092
esv3607101 CNV loss 21293372
esv3607102 CNV loss 21293372
nsv830515 CNV gain+loss 17160897

Variation tolerance for SPINK6 Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPINK6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINK6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK6 Gene

Disorders for SPINK6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPINK6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pompholyx
  • cheiropompholyx
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPINK6

genes like me logo Genes that share disorders with SPINK6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPINK6 Gene

Publications for SPINK6 Gene

  1. Inhibition of kallikrein-related peptidases by the serine protease inhibitor of Kazal-type 6. (PMID: 21439340) Kantyka T … Meyer-Hoffert U (Peptides 2011) 3 4 54
  2. Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases. (PMID: 20667819) Meyer-Hoffert U … Schröder JM (The Journal of biological chemistry 2010) 3 4 54
  3. 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 54
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 54
  5. A genomic analysis of rat proteases and protease inhibitors. (PMID: 15060002) Puente XS … López-Otín C (Genome research 2004) 2 3 54

Products for SPINK6 Gene

Sources for SPINK6 Gene