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Aliases for SPINK9 Gene

Aliases for SPINK9 Gene

  • Serine Peptidase Inhibitor, Kazal Type 9 2 3 5
  • Lymphoepithelial Kazal-Type-Related Inhibitor 2 3 4
  • LEKTI2 3 4
  • Serine Protease Inhibitor Kazal-Type 9 3

External Ids for SPINK9 Gene

Previous GeneCards Identifiers for SPINK9 Gene

  • GC05P147695
  • GC05P142862

Summaries for SPINK9 Gene

Entrez Gene Summary for SPINK9 Gene

  • The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015]

GeneCards Summary for SPINK9 Gene

SPINK9 (Serine Peptidase Inhibitor, Kazal Type 9) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK9 Gene

  • Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK9 Gene

Genomics for SPINK9 Gene

Regulatory Elements for SPINK9 Gene

Enhancers for SPINK9 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
GH05G148342 1 FANTOM5 ENCODE 11.6 +22.2 22243 1.3 TBP CBX3 TAF1 TAL1 NR2F1 ZBED1 MAX ELF4 TCF12 ARID1B SPINK7 SPINK9 FBXO38 LOC102546294 SPINK14 ENSG00000283653
GH05G148205 0.9 FANTOM5 Ensembl 9.8 -115.6 -115647 0.5 JUND HNF4G MAX HNF4A ZBTB33 GABPA YY1 SPINK7 SPINK14 SPINK9 SPINK13 FBXO38 SPINK6 HMGN1P16
GH05G148237 0.8 ENCODE 10.4 -83.2 -83190 1.5 TBP ZBTB21 INSM2 MAX FEZF1 BRCA1 RFX5 ZEB1 ZNF335 HIC1 SPINK6 SPINK13 SPINK7 SPINK9 LOC105378220
GH05G148192 0.6 FANTOM5 10.7 -128.2 -128169 0.4 NFIC NFIB CEBPB EP300 SPINK6 FBXO38 SPINK14 SPINK7 SPINK9 LOC102546294
GH05G148466 0.5 Ensembl 10.6 +144.9 144898 0.2 ZKSCAN8 CEBPB CEBPG SPINK9 SPINK7 SPINK14 SPINK6 GC05M148466 ENSG00000251330
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPINK9 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SPINK9 gene promoter:

Genomic Location for SPINK9 Gene

Chromosome:
5
Start:
148,321,203 bp from pter
End:
148,339,849 bp from pter
Size:
18,647 bases
Orientation:
Plus strand

Genomic View for SPINK9 Gene

Genes around SPINK9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINK9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK9 Gene

Proteins for SPINK9 Gene

  • Protein details for SPINK9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5DT21-ISK9_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 9
    Protein Accession:
    Q5DT21
    Secondary Accessions:
    • B2RPN9

    Protein attributes for SPINK9 Gene

    Size:
    86 amino acids
    Molecular mass:
    9756 Da
    Quaternary structure:
    • Dimer. Interacts with KLK5 and KLK8.

neXtProt entry for SPINK9 Gene

Post-translational modifications for SPINK9 Gene

No Post-translational modifications

Other Protein References for SPINK9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINK9 Gene

Domains & Families for SPINK9 Gene

Gene Families for SPINK9 Gene

Protein Domains for SPINK9 Gene

Suggested Antigen Peptide Sequences for SPINK9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPINK9: view

No data available for UniProtKB/Swiss-Prot for SPINK9 Gene

Function for SPINK9 Gene

Molecular function for SPINK9 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5.

Gene Ontology (GO) - Molecular Function for SPINK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IDA 19194479
GO:0005515 protein binding IPI 19194479
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK9: view
genes like me logo Genes that share phenotypes with SPINK9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK9 Gene

Localization for SPINK9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK9 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 SPINK9 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for SPINK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with SPINK9: view

Pathways & Interactions for SPINK9 Gene

genes like me logo Genes that share pathways with SPINK9: view

Pathways by source for SPINK9 Gene

Interacting Proteins for SPINK9 Gene

Selected Interacting proteins: Q5DT21-ISK9_HUMAN for SPINK9 Gene via IID

Gene Ontology (GO) - Biological Process for SPINK9 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:0070268 cornification TAS --
GO:1900004 negative regulation of serine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with SPINK9: view

No data available for SIGNOR curated interactions for SPINK9 Gene

Drugs & Compounds for SPINK9 Gene

No Compound Related Data Available

Transcripts for SPINK9 Gene

mRNA/cDNA for SPINK9 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPINK9 Gene

Serine peptidase inhibitor, Kazal type 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK9 Gene

No ASD Table

Relevant External Links for SPINK9 Gene

GeneLoc Exon Structure for
SPINK9
ECgene alternative splicing isoforms for
SPINK9

Expression for SPINK9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPINK9 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPINK9 Gene:

SPINK9

SOURCE GeneReport for Unigene cluster for SPINK9 Gene:

Hs.631798

mRNA Expression by UniProt/SwissProt for SPINK9 Gene:

Q5DT21-ISK9_HUMAN
Tissue specificity: Skin. Highly expressed at sites of hyperkeratosis. Also detected in thymus, tonsils, testis, pancreas, liver, placenta and brain. Expressed at stratum granulosum and stratum corneum at palmar and plantar sites (at protein level).

Evidence on tissue expression from TISSUES for SPINK9 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with SPINK9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINK9 Gene

Orthologs for SPINK9 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPINK9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK9 34 35
  • 98.45 (n)
dog
(Canis familiaris)
Mammalia SPINK9 34 35
  • 82.56 (n)
cow
(Bos Taurus)
Mammalia SPINK9 34
  • 80.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 45 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
Species where no ortholog for SPINK9 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)
  • chicken (Gallus gallus)
  • 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)
  • mouse (Mus musculus)
  • 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 SPINK9 Gene

ENSEMBL:
Gene Tree for SPINK9 (if available)
TreeFam:
Gene Tree for SPINK9 (if available)

Paralogs for SPINK9 Gene

(8) SIMAP similar genes for SPINK9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SPINK9: view

No data available for Paralogs for SPINK9 Gene

Variants for SPINK9 Gene

Sequence variations from dbSNP and Humsavar for SPINK9 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000019494 -- 148,329,095(+) TCCTT(G/T)TACCT intron-variant
rs1000060844 -- 148,325,021(+) AAATA(A/C)AATCA intron-variant
rs1000168825 -- 148,340,686(+) TATTA(C/T)CTATA intron-variant, utr-variant-3-prime
rs1000472348 -- 148,322,971(+) CCAGA(A/C)TCCTT intron-variant, upstream-variant-2KB
rs1000621643 -- 148,331,260(+) AAAAT(A/G)TGATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPINK9 Gene

Variant ID Type Subtype PubMed ID
esv3607102 CNV loss 21293372
esv3607106 CNV loss 21293372
esv3607107 CNV gain 21293372
nsv5058 CNV insertion 18451855
nsv599945 CNV loss 21841781

Variation tolerance for SPINK9 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.64; 65.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPINK9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINK9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK9 Gene

Disorders for SPINK9 Gene

Relevant External Links for SPINK9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPINK9

No disorders were found for SPINK9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINK9 Gene

Publications for SPINK9 Gene

  1. Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor. (PMID: 19190773) Meyer-Hoffert U. … Schroeder J.M. (PLoS ONE 2009) 3 4 64
  2. SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor. (PMID: 19194479) Brattsand M. … Egelrud T. (J. Invest. Dermatol. 2009) 3 4 64
  3. SPINK9 stimulates metalloprotease/EGFR-dependent keratinocyte migration via purinergic receptor activation. (PMID: 24441102) Sperrhacke M. … Reiss K. (J. Invest. Dermatol. 2014) 3 64
  4. Characterization of SPINK9, a KLK5-specific inhibitor expressed in palmo-plantar epidermis. (PMID: 22505519) BrAonnstrAPm K. … Brattsand M. (Biol. Chem. 2012) 3 64
  5. Expression and regulation of murine SPINK12, a potential orthologue of human LEKTI2. (PMID: 21899598) Reiss K. … Sedlacek R. (Exp. Dermatol. 2011) 3 64

Products for SPINK9 Gene

Sources for SPINK9 Gene

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