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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPINK5 Gene

protein-coding   GIFtS: 57
GCID: GC05P147423

serine peptidase inhibitor, Kazal type 5

(Previous names: serine protease inhibitor, Kazal type 5 )
 Explore 27 diseases affiliated with
SPINK5 via our new
 Human Malady Compendium 
Biological research products
for SPINK5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kazal Type 51 2     DKFZp686K191841
LEKTI1 2 3 5     FLJ215441
LETKI1 2     FLJ975361
NETS1 2     FLJ975961
NS1 2     FLJ997941
VAKTI1 2     Lymphoepithelial Kazal-Type-Related Inhibitor2
Serine Protease Inhibitor, Kazal Type 51 2     Serine Protease Inhibitor Kazal-Type 52
Lympho-Epithelial Kazal-Type-Related Inhibitor2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPINK5:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPINK5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 5 precursor  
Size: 1064 amino acids; 120714 Da
Subcellular location: Secreted
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NQ38

  • SPINK5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000430264   ENSP00000381472   ENSP00000352936   ENSP00000421519   ENSP00000427943  
     ENSP00000256084  

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    Uscn Proteins for SPINK5

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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


    SPINK5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SPINK5


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SPINK5 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002350 Prot_inh_Kazal
     IPR011497 Kazal-type_dom

    Graphical View of Domain Structure for InterPro Entry Q9NQ38

    ProtoNet protein and cluster: Q9NQ38

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    miRNA
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    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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    Clone
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IDA15680911
    GO:0030414peptidase inhibitor activity ----


    SPINK5 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SPINK5: Spink5tm1Drh Spink5tm1Hov
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Spink5):
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 

    SPINK5 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_CNTF receptor signaling
    Cell adhesion_Plasmin signaling0.07
    Cell adhesion Plasmin signaling0.07

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SPINK5
        Cell adhesion Plasmin signaling


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



    SPINK5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009913epidermal cell differentiation IDA12915442
    GO:0010466negative regulation of peptidase activity ----
    GO:0016525negative regulation of angiogenesis TAS15680911
    GO:0030155regulation of cell adhesion IEA--
    GO:0030198extracellular matrix organization TAS15680911


    SPINK5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPINK5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPINK5
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SPINK5 / ISK5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    ENST00000508733 ENST00000476697(uc010jgq.1) ENST00000507988(uc010jgs.1)
    ENST00000256084 ENST00000481286 ENST00000476608

    miRNA
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    7 QIAGEN miScript miRNA 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*
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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPINK5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINK5

    Additional cDNA 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 

    24/90 AceView cDNA sequences (see all 90):

    W94686 AA490580 CA450611 AA954357 T47219 BG682220 T47218 BI256857 
    AA496982 BP352696 BQ353977 AI831398 AA564467 BM955584 NM_006846 AJ228139 
    AI891123 BG740292 W95192 AI002171 AA554158 BU677429 BX648792 BU171812 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPINK5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SPINK5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPINK5

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SPINK5 gene from 2/8 species (see all 8)    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 70.24(n)1
    60.41(a)1
      18 (23.74 cM)5
    724321  NM_001081180.11  NP_001074649.11 
     439632355 
    chicken
    (Gallus gallus)
    Aves SPINK51 serine peptidase inhibitor, Kazal type 5 47.47(n)
    33.58(a)
      416235  NM_001030612.1  NP_001025783.1 


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1527 NCBI SNPs in SPINK5 are shown (see all 1527    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs23030671,2
    C,F,A,H,other147480955(+) 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--------
    rs1131150611,2
    C,F,--142589380(+) ATAGAG/AATGGG 3 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs1146971891,2
    C,F,--142589601(+) TTGGGC/TAACTT 3 -- us2k11Minor allele frequency- T:0.02NA 120
    rs748922441,2
    --142590123(+) ACAAGA/TTTTAT 3 -- us2k10--------
    rs771908891,2
    F,--142590328(+) AGGTTA/GTCTTT 3 -- us2k11Minor allele frequency- G:0.03NA 120
    rs775325531,2
    --142590610(+) GGACTC/TCATCA 3 -- us2k11Minor allele frequency- T:0.01NA 120
    rs22877731,2
    C,F,H,--142590716(-) TTTAGC/TTTCCA 3 -- us2k119Minor allele frequency- T:0.03EA NS NA 3824
    rs745727341,2
    C,F,--142590820(+) CAGTCA/CTACTG 3 -- ut513Minor allele frequency- C:0.15WA CSA 122
    rs783659691,2
    C,F,,--142592373(+) ATGAGC/TCTCTC 3 -- int12Minor allele frequency- T:0.50WA CSA 4

    HapMap Linkage Disequilibrium report for SPINK5 (147405246 - 147516925 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for SPINK5
         2 CNVs: 99318 39436
         5 Indels: 40806 42103 62441 46786 12765
    Human Gene Mutation Database (HGMD): SPINK5

    Locus Specific Mutation Databases (LSDB): SPINK5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPINK5
    DNA2.0 Custom Variant and Variant Library Synthesis for SPINK5

    (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.)
    About This Section

    SPINK5 for disorders           About GeneDecksing

    OMIM gene information: 605010   
    OMIM disorders: 256500  147050  
    UniProtKB/Swiss-Prot: ISK5_HUMAN, Q9NQ38
  • Defects in SPINK5 are the cause of Netherton syndrome (NETH) [MIM:256500]. NETH is 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

    20/27 diseases for SPINK5 (see all 27):    About MalaCards
    netherton syndrome    ichthyosis    ichthyosis linearis circumflexa    atopy
    congenital ichthyosiform erythroderma    autosomal recessive congenital ichthyosis    multiple endocrine neoplasia    celiac disease
    atopic dermatitis    psoriatic arthritis    skin disease    carcinoid syndrome
    dermatitis    rickets    neuroendocrine carcinoma    eczema
    psoriasis    tonsillitis    acute pancreatitis    vaginitis

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

    10/11 Novoseek 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)
    About This Section

    PubMed articles for SPINK5 gene, integrated from 9 sources (see all 87):
    (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. (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. (1999)
    3. 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. (2006)
    4. Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population. (PubMed id 12752122)1, 4, 9 Kato A....Ishii M. (2003)
    5. 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. (2001)
    6. Rapid detection of the SPINK5 polymorphism Glu420Lys by real-time PCR technology. (PubMed id 15820494)1, 4, 9 Rihs H.P....Bruning T. (2005)
    7. Asthma severity and genetics in Taiwan. (PubMed id 15986064)1, 4, 9 Huang J.L. (2005)
    8. Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample. (PubMed id 15005725)1, 4, 9 Kabesch M....von Mutius E. (2004)
    9. Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium. (PubMed id 11594460)1, 2, 9 Ahmed A.... Parenteau N. (2001)
    10. New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI. (PubMed id 20533828)1, 2 Bennett K.... Mills K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11005 HGNC: 15464 AceView: SPINK5 Ensembl:ENSG00000133710 euGenes: HUgn11005
    ECgene: SPINK5 H-InvDB: SPINK5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPINK5 Pharmacogenomics, SNPs, Pathways
    SPINK5basehttp://bioinf.uta.fi/SPINK5base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPINK5

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

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