SPINK6 Gene (Protein Coding)

Serine Peptidase Inhibitor Kazal Type 6

GC05P148202
GIFtS:
31
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 5
  • Serine Protease Inhibitor Kazal-Type 6 3 4
  • Protease Inhibitor H 2 3
  • Kallikrein Inhibitor 3 4
  • UNQ844 2 3
  • BUSI2 2 3
  • Serine Protease Inhibitor, Kazal Type 6 2
  • Acrosin Inhibitor 3
  • MGC21394 2
  • SPINK6 5

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 Pubs

Download GeneHancer 2017 data
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 0.6 EPDnew ENCODE 272.5 +0.1 80 0.9 CREB1 SPINK6 piR-40666-004 HMGN1P16 MARCOL lnc-HTR4-4 LOC102546294
GH05J148201 Enhancer 0.2 FANTOM5 250.7 -1.4 -1423 0.1 SPINK6 piR-40666-004 FBXO38 JAKMIP2 HSALNG0045696 SPINK14 LOC102546294
GH05J148185 Enhancer 0.9 FANTOM5 Ensembl ENCODE 22.7 -15.5 -15477 4.2 CEBPB EP300 JUND SPI1 NR2F2 CEBPG SPINK6 FBXO38 LOC102546294 SPINK7 SPINK9 HSALNG0045696 piR-40666-004 SPINK14
GH05J148145 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 14.5 -56.2 -56193 3.2 CEBPA ATF3 JUND YY1 ZNF217 HOMEZ THAP11 MBD2 FOXA2 KDM6A lnc-SPINK5-3 SPINK14 SPINK6 SPINK7 ABLIM3 HSALNG0045694 SPINK5 LOC102546294
GH05J148205 Enhancer 0.8 FANTOM5 Ensembl 23.1 +4.4 4423 5.6 YY1 RXRA ZBTB33 JUND HNF4A FOXA1 REST MAX MAFK SP1 SPINK6 SPINK7 SPINK14 SPINK9 SPINK13 FBXO38 ENSG00000272411 SPINK5 HMGN1P16 MARCOL
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr5:148,202,778-148,215,137
(GRCh38/hg38)
Size:
12,360 bases
Orientation:
Plus strand

Previous Assembly
chr5:147,582,341-147,594,700
(GRCh37/hg19 by Entrez Gene)
Size:
12,360 bases
Orientation:
Plus strand

chr5:147,582,357-147,594,700
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for SPINK6 Gene

Proteins for SPINK6 Gene

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  3. Assay products for research

  • 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINK6 Gene

Domains & Families for SPINK6 Gene

Gene Families for SPINK6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for SPINK6 Gene

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

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

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  2. CRISPR products for research
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  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 Models for research

  • Taconic Biosciences Mouse Models for SPINK6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINK6

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
cytoskeleton 1
nucleus 1

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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000324870 Q6UWN8-ISK6_HUMAN for SPINK6 Gene via STRING IID

GPS-Prot Interaction Network for SPINK6

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

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(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

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINK6

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

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for SPINK6 Gene
mRNA expression by GTEx 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

Primer products for research

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 29 30
  • 99.17 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SPINK6 30
  • 73 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SPINK6 30
  • 60 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SPINK6 30
  • 60 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SPINK6 30
  • 59 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Spink6 30
  • 59 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SPINK6 30
  • 39 (a)
 OneToOne
Species where no ortholog for SPINK6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for SPINK6

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

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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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPINK6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
SPINK6

SNP Genotyping and Copy Number Assays for research

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: COP

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

Additional Disease Information for SPINK6

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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
  4. A genomic analysis of rat proteases and protease inhibitors. (PMID: 15060002) Puente XS … López-Otín C (Genome research 2004) 2 3
  5. 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

ExternalLinks

View latest publications for SPINK6 gene in Mastermind

Products for SPINK6 Gene

Sources for SPINK6 Gene