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SPINK5 Gene

protein-coding   GIFtS: 58
GCID: GC05P147423

Serine Peptidase Inhibitor, Kazal Type 5

(Previous names: serine protease inhibitor, Kazal type 5)
  See SPINK5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serine Peptidase Inhibitor, Kazal Type 51 2     LETKI2
LEKTI2 3 5     NETS2
Serine Protease Inhibitor, Kazal Type 51 2     NS2
Lymphoepithelial Kazal-Type-Related Inhibitor1 2     VAKTI2
Lympho-Epithelial Kazal-Type-Related Inhibitor2 3     Serine Protease Inhibitor Kazal-Type 52

External Ids:    HGNC: 154641   Entrez Gene: 110052   Ensembl: ENSG000001337107   OMIM: 6050105   UniProtKB: Q9NQ383   

Export aliases for SPINK5 gene to outside databases

Previous GC identifers: GC05P147475 GC05P148025 GC05P147472 GC05P142590


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPINK5 Gene:
This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The
inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of
mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective
cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SPINK5 Gene:
SPINK5 (serine peptidase inhibitor, Kazal type 5) is a protein-coding gene. Diseases associated with SPINK5 include netherton syndrome, and ichthyosis linearis circumflexa. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38
Function: Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection
of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the
activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a
pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin

Gene Wiki entry for SPINK5 (LEKTI) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPINK5 gene promoter:
         Bach1   LHX3b/Lhx3b   NF-kappaB   HNF-1A   AREB6   HEN1   HNF-1   LHX3a/Lhx3a   NF-kappaB1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINK5 promoter sequence
   Search Chromatin IP Primers for SPINK5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPINK5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q31-q32

SPINK5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P147423:  view genomic region     (about GC identifiers)

Start:
147,405,246 bp from pter      End:
147,516,925 bp from pter
Size:
111,680 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 5 precursor  
Size: 1064 amino acids; 120714 Da
5 PDB 3D structures from and Proteopedia for SPINK5:
1H0Z (3D)        1HDL (3D)        1UUC (3D)        1UVF (3D)        1UVG (3D)    
Secondary accessions: A8MYE8 B7WPB7 D6REN5 O75770 Q3LX95 Q3LX96 Q3LX97 Q96PP2 Q96PP3
Alternative splicing: 3 isoforms:  Q9NQ38-1   Q9NQ38-2   Q9NQ38-3   

Explore the universe of human proteins at neXtProt for SPINK5: NX_Q9NQ38

Explore proteomics data for SPINK5 at MOPED

Post-translational modifications: 

  • Proteolytically processed by furin in individual domains (D1, D5, D6, D8 through D11, and D9 through D15)
    exhibiting various inhibitory potentials for multiple proteases1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPINK5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001121170.1  NP_001121171.1  NP_006837.2  

    ENSEMBL proteins: 
     ENSP00000430264   ENSP00000381472   ENSP00000352936   ENSP00000427943   ENSP00000421519  
     ENSP00000256084  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SPINK: Serine peptidase inhibitors, Kazal type

    1 InterPro protein domain:
     IPR002350 Kazal_dom

    Graphical View of Domain Structure for InterPro Entry Q9NQ38

    ProtoNet protein and cluster: Q9NQ38

    1 Blocks protein domain: IPB011497 Protease inhibitor

    UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38
    Domain: Contains at least one active inhibitory domain for trypsin (domain 6)
    Similarity: Contains 15 Kazal-like domains


    Find genes that share domains with SPINK5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISK5_HUMAN, Q9NQ38
    Function: Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection
    of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the
    activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a
    pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IDA10419450
    GO:0005515protein binding ----
    GO:0030414peptidase inhibitor activity ----
         
    Find genes that share ontologies with SPINK5           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Spink5):
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 

    Find genes that share phenotypes with SPINK5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SPINK5: Spink5tm1Drh Spink5tm1Hov

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPINK5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPINK5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPINK5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPINK5

    miRNA
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    miRTarBase miRNAs that target SPINK5:
    hsa-mir-335-5p (MIRT018086)

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    7 qRT-PCR Assays for microRNAs that regulate SPINK5:
    hsa-miR-4311 hsa-miR-3688-3p hsa-miR-605 hsa-miR-1324 hsa-miR-548u hsa-miR-548n hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidSPINK5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SPINK5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINK5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ISK5_HUMAN, Q9NQ38: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum5
    extracellular5
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS10419450
    GO:0005737cytoplasm IDA12915442
    GO:0005783endoplasmic reticulum IDA15680911
    GO:0005789endoplasmic reticulum membrane IDA15680911
    GO:0005829cytosol IDA15680911

    Find genes that share ontologies with SPINK5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SPINK5 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Plasmin signaling
    Cell adhesion Plasmin signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SPINK5
        Cell adhesion Plasmin signaling


        Pathway & Disease-focused RT2 Profiler PCR Array including SPINK5: 
              Angiogenic Growth Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPINK5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SPINK5 (Q9NQ383 ENSP000003529364) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRSS1P074773, ENSP000003087204I2D: score=1 STRING: ENSP00000308720
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009913epidermal cell differentiation IDA12915442
    GO:0010466negative regulation of peptidase activity ----
    GO:0010951negative regulation of endopeptidase activity IDA10419450
    GO:0016525negative regulation of angiogenesis TAS15680911
    GO:0030155regulation of cell adhesion IEA--

    Find genes that share ontologies with SPINK5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPINK5 (ISK5)

    1 Novoseek inferred chemical compound relationship for SPINK5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 74 77 11874482 (4), 12667078 (3), 17989726 (2), 12925213 (2) (see all 32)



    Find genes that share compounds with SPINK5           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPINK5 gene (3 alternative transcripts): 
    NM_001127698.1  NM_001127699.1  NM_006846.3  

    Unigene Cluster for SPINK5:

    Serine peptidase inhibitor, Kazal type 5
    Hs.331555  [show with all ESTs]
    Unigene Representative Sequence: NM_001127698
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521206 ENST00000398454(uc010jgr.2 uc003low.2) ENST00000359874(uc003loy.2 uc003lox.2)
    ENST00000476697(uc010jgq.1) ENST00000508733 ENST00000507988(uc010jgs.1)
    ENST00000256084 ENST00000481286 ENST00000476608
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate SPINK5:
    hsa-miR-4311 hsa-miR-3688-3p hsa-miR-605 hsa-miR-1324 hsa-miR-548u hsa-miR-548n hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidSPINK5 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): SPINK5 (NM_001127698)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINK5
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat SPINK5

    Additional mRNA sequence: 

    AF086524.1 AJ228139.2 AK025197.1 AK299455.1 AK301660.1 AK307648.1 AK309753.1 DQ149927.1 
    DQ149928.1 DQ149929.1 

    9 DOTS entries:

    DT.442169  DT.97795829  DT.92436505  DT.99998624  DT.75108289  DT.86821154  DT.87008661  DT.91840988 
    DT.425060 

    Selected AceView cDNA sequences (see all 90):

    BI256857 T47219 T47218 AA496982 CA450611 AA954357 W94686 AA490580 
    BG682220 BM955583 AI341060 BM956132 BU171812 AI002171 AA554158 W95192 
    BU677429 NM_006846 AA339784 AI393699 AJ228139 BX117135 BP352696 BU687029 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPINK5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGAAAAAA
    SPINK5 Expression
    About this image


    SPINK5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Heart (Cardiovascular System)
     
     Epidermis (Integumentary System)
     
     Esophagus (Gastrointestinal Tract)
     
     Tonsil (Hematopoietic System)
    SPINK5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPINK5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.331555

    UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38
    Tissue specificity: Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid
    gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and
    prostate

        Pathway & Disease-focused RT2 Profiler PCR Array including SPINK5: 
              Angiogenic Growth Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINK5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SPINK5 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spink51 , 5 serine peptidase inhibitor, Kazal type 51, 5 69.89(n)1
    60.12(a)1
      18 (23.74 cM)5
    724321  NM_001081180.11  NP_001074649.11 
     439632355 
    chicken
    (Gallus gallus)
    Aves SPINK71 serine peptidase inhibitor, Kazal type 7 (putative) 47.87(n)
    35.47(a)
      416236  NM_001112662.1  NP_001106132.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPINK56
    serine peptidase inhibitor, Kazal type 5
    30(a)
    1 ↔ 1
    2(121671426-121688208)


    ENSEMBL Gene Tree for SPINK5 (if available)
    TreeFam Gene Tree for SPINK5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPINK5 gene
    8 SIMAP similar genes for SPINK5 using alignment to 4 protein entries:     ISK5_HUMAN (see all proteins):
    SPINK6    SPINK1    tmp_locus_3    SPINK14    SPINK4    SPINK2
    SPINK7    SPINK9

    Find genes that share paralogs with SPINK5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPINK5 (see all 1839)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219083871,2
    Cpathogenic1147775096(+) GCACTC/TGAGAA 6 R * stg10--------
    rs23030671,2,,4
    C,F,A,Hother1147756431(+) AAGGTA/GAATCA 6 K E mis1 ese330Minor allele frequency- G:0.43EA NA NS WA EU 5768
    rs2020048151,2
    C--142589133(+) ATTTTA/TTATAT 3 -- us2k10--------
    rs351219141,2
    C--142598504(+) AAATTG/-TTTTT 3 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs665415191,2
    C--142598506(+) AATTT-/GTTTTT 3 -- int10--------
    rs1421531641,2
    C--142609810(+) TTTTT-/TACTTA 3 -- int10--------
    rs674062561,2
    C--142613786(+) AGATT-/ATATA 
            
    ATATA
    3 -- int10--------
    rs768399461,2
    C--142622773(+) GTGTG-/TGGGGG 3 -- int10--------
    rs1386034371,2
    C--142623933(+) CCTCC-/CTCT  
            
    CTCTC
    3 -- int10--------
    rs1402680401,2
    C--142624615(+) TCTTT-/TTTAA 
            
    TTTCT
    3 -- int10--------

    HapMap Linkage Disequilibrium report for SPINK5 (147405246 - 147516925 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SPINK5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730894CNV Deletion23290073
    esv1953564CNV Deletion18987734
    esv3555CNV Deletion18987735
    esv2569672CNV Deletion19546169
    nsv883015CNV Loss21882294
    esv8009CNV Loss19470904
    nsv328025CNV Loss16902084
    nsv327946CNV Loss16902084
    nsv830515CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): SPINK5
    Locus Specific Mutation Databases (LSDB): SPINK5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPINK5
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605010   
    OMIM disorders: 256500  147050  
    UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38
  • Netherton syndrome (NETH) [MIM:256500]: An autosomal recessive congenital ichthyosis associated with hair
    shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa,
    ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High
    postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 4 diseases for SPINK5:    
    About MalaCards
    netherton syndrome    ichthyosis linearis circumflexa    atopy    ectropion

    3 diseases from the University of Copenhagen DISEASES database for SPINK5:
    Netherton syndrome     Congenital ichthyosiform erythroderma     Atopic dermatitis

    Find genes that share disorders with SPINK5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SPINK5 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    netherton syndrome 98.7 49 17608759 (3), 11874482 (3), 16374478 (2), 17989726 (2) (see all 27)
    ichthyosiform erythroderma congenital 91.8 2 15606522 (2)
    congenital ichthyosis 81.4 3 19683336 (1)
    ichthyosis 76.1 2 16120162 (1), 15675955 (1)
    dermatitis atopic 75.8 23 15753894 (4), 17989887 (3), 12752122 (2), 19534795 (2) (see all 10)
    atopy 65.4 3 12752122 (2), 19534795 (1)
    skin diseases 63.8 10 17989726 (1), 14551605 (1), 15466487 (1), 16307658 (1) (see all 6)
    asthma 40.2 23 15753894 (5), 19534795 (5), 14551605 (2), 15820494 (1) (see all 7)
    growth retardation 34.7 1 17140555 (1)
    psoriasis 26.2 2 15606522 (2)

    Genetic Association Database (GAD): SPINK5
    Human Genome Epidemiology (HuGE) Navigator: SPINK5 (21 documents)

    Export disorders for SPINK5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SPINK5 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with SPINK5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene polymorphism in Netherton and common atopic disease. (PubMed id 11544479)1, 2, 4 Walley A.J.... Cookson W.O.C.M. (Nat. Genet. 2001)
    2. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. (PubMed id 10419450)1, 2, 3 Maegert H.-J.... Forssmann W.-G. (J. Biol. Chem. 1999)
    3. Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. (PubMed id 18774391)1, 4, 9 Weidinger S....Irvine A.D. (J. Allergy Clin. Immunol. 2008)
    4. SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing. (PubMed id 16374478)1, 2, 9 Tartaglia-Polcini A.... D'Alessio M. (J. Invest. Dermatol. 2006)
    5. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. (PubMed id 12752122)1, 4, 9 Kato A....Ishii M. (Br. J. Dermatol. 2003)
    6. Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort. (PubMed id 17989887)1, 4, 9 Hubiche T....Boralevi F. (Acta Derm. Venereol. 2007)
    7. A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population. (PubMed id 19534795)1, 4, 9 Liu Q....Gong Y. (BMC Med. Genet. 2009)
    8. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. (PubMed id 11511292)1, 2, 9 Sprecher E....Richard G. (J. Invest. Dermatol. 2001)
    9. Rapid detection of the SPINK5 polymorphism Glu420Lys by real-time PCR technology. (PubMed id 15820494)1, 4, 9 Rihs H.P....BrA1ning T. ( international journal of clinical chemistry 2005)
    10. Asthma severity and genetics in Taiwan. (PubMed id 15986064)1, 4, 9 Huang J.L. (J Microbiol Immunol Infect 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11005 HGNC: 15464 AceView: SPINK5 Ensembl:ENSG00000133710 euGenes: HUgn11005
    ECgene: SPINK5 H-InvDB: SPINK5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPINK5 Pharmacogenomics, SNPs, Pathways
    SPINK5basehttp://bioinf.uta.fi/SPINK5base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SPINK5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPINK5 gene:
    Search GeneIP for patents involving SPINK5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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