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KLK8 Gene

protein-coding   GIFtS: 59
GCID: GC19M051499

Kallikrein-Related Peptidase 8

(Previous name: kallikrein 8 (neuropsin/ovasin))
(Previous symbol: PRSS19)
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(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
Kallikrein-Related Peptidase 81 2     HNP2
PRSS191 2 3 5     kallikrein-82
TADG142 3 5     ovasin2
Serine Protease 192 3     EC 3.4.21.1183
Serine Protease TADG-142 3     Neuropsin3
Tumor-Associated Differentially Expressed Gene 14 Protein2 3     Ovasin3
NP2 3     hK83
NRPN2 3     EC 3.4.218
Kallikrein 8 (Neuropsin/Ovasin)1     

External Ids:    HGNC: 63691   Entrez Gene: 112022   Ensembl: ENSG000001294557   OMIM: 6056445   UniProtKB: O602593   

Export aliases for KLK8 gene to outside databases

Previous GC identifers: GC19M052129 GC19M051860 GC19M056175 GC19M056191 GC19M047832


(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 KLK8 Gene:
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests
that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease
biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on
chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a
biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding
different isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for KLK8 Gene:
KLK8 (kallikrein-related peptidase 8) is a protein-coding gene. Diseases associated with KLK8 include intracranial hypotension, and seborrheic keratosis. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is KLK10.

UniProtKB/Swiss-Prot: KLK8_HUMAN, O60259
Function: Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen,
kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces
neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation
of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term
potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin
desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal
cord injury

Gene Wiki entry for KLK8 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:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLK8 gene promoter:
         Max1   C/EBPbeta   AML1a   Evi-1   Gfi-1   HEN1   c-Myb   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLK8 promoter sequence
   Search Chromatin IP Primers for KLK8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLK8


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

Entrez Gene cytogenetic band: 19q13   Ensembl cytogenetic band:  19q13.41   HGNC cytogenetic band: 19q13

KLK8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLK8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051499:  view genomic region     (about GC identifiers)

Start:
51,499,263 bp from pter      End:
51,505,967 bp from pter
Size:
6,705 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KLK8_HUMAN, O60259 (See protein sequence)
Recommended Name: Kallikrein-8 precursor  
Size: 260 amino acids; 28048 Da
Subunit: Interacts with SPINK9
Miscellaneous: Expressed at high levels in serum, ascites fluid and tumor cytosol of advanced stage ovarian cancer
patients and may serve as a marker of ovarian cancer
Secondary accessions: Q5V9X1 Q5V9X2 Q8IW69 Q9HCB3 Q9NR68 Q9NR69 Q9UIL9 Q9UQ47
Alternative splicing: 4 isoforms:  O60259-1   O60259-2   O60259-3   O60259-4   (Produced as a result of a human-specific mutation which is not found in other primates)

Explore the universe of human proteins at neXtProt for KLK8: NX_O60259

Explore proteomics data for KLK8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn110
  • Selected DME Specific Peptides for KLK8 (O60259) (see all 5)
     GDSGGPL  VLTAAHC  SGGPLVC  WVLTAAH 


    See KLK8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001268360.1  NP_009127.1  NP_653088.1  NP_653089.1  NP_653090.1  

    ENSEMBL proteins: 
     ENSP00000375682   ENSP00000472016   ENSP00000341555   ENSP00000469278   ENSP00000473067  
     ENSP00000472273   ENSP00000291726   ENSP00000325072  

    KLK8 Human Recombinant Protein Products:

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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:
    KLK: Kallikreins
    PRSS: Serine peptidases / Serine peptidases

    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry O60259

    ProtoNet protein and cluster: O60259

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: KLK8_HUMAN, O60259
    Similarity: Belongs to the peptidase S1 family. Kallikrein subfamily
    Similarity: Contains 1 peptidase S1 domain


    KLK8 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLK8_HUMAN, O60259
    Function: Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen,
    kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces
    neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation
    of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term
    potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin
    desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal
    cord injury
    Catalytic activity: Cleavage of amide substrates following the basic amino acids Arg or Lys at the P1 position,
    with a preference for Arg over Lys
    Enzyme regulation: Inhibited by a range of serine protease inhibitors including antipain, aprotinin, leupeptin,
    benzamidine and soybean trypsin inhibitor
    Biophysicochemical properties: Kinetic parameters: KM=0.07 mM for Pro-Phe-Arg-MCA; KM=0.07 mM for
    Z-Val-Val-Arg-MCA; KM=0.07 mM for Boc-Val-Pro-Arg-MCA; KM=0.10 mM for Boc-Leu-Lys-Arg-MCA; KM=0.10 mM for
    Boc-Val-Leu-Lys-MCA; KM=0.07 mM for Boc-Phe-Ser-Arg-MCA; Vmax=7.1 umol/min/mg enzyme toward Pro-Phe-Arg-MCA;
    Vmax=5.4 umol/min/mg enzyme toward Z-Val-Val-Arg-MCA; Vmax=3.9 umol/min/mg enzyme toward Boc-Val-Pro-Arg-MCA;
    Vmax=2.6 umol/min/mg enzyme toward Boc-Leu-Lys-Arg-MCA; Vmax=1.9 umol/min/mg enzyme toward Boc-Val-Leu-Lys-MCA;
    Vmax=1.6 umol/min/mg enzyme toward Boc-Phe-Ser-Arg-MCA; pH dependence: Optimum pH is 8.5. Active from pH 7-10;

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.1181

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA16337200
    GO:0005515protein binding IPI17761692
         
    KLK8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLK8:
     Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Klk8):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system 

    KLK8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KLK8: Klk8tm1Shio Klk8tm1Lth

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLK8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLK8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLK8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLK8

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK8


    (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
    KLK8_HUMAN, O60259: Secreted. Cytoplasm. Note=Shows a cytoplasmic distribution in the keratinocytes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space ISS--
    GO:0005737cytoplasm IDA17761692

    KLK8 for ontologies           About GeneDecksing


    (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 KLK8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    2Spinal Cord Injury
    Spinal Cord Injury
    3MSP-RON Signaling
    MSP-RON Signaling

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KLK8
        MSP-RON Signaling
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 BioSystems Pathway for KLK8
        Spinal Cord Injury



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLK8
    Interactions:

        Search GeneGlobe Interaction Network for KLK8

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for KLK8 (O602593 ENSP000003756824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    UBBENSP000003046974STRING: ENSP00000304697
    RGS2ENSP000002353824STRING: ENSP00000235382
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007613memory ISS--
    GO:0008219cell death ISS--
    GO:0009611response to wounding ISS--
    GO:0031642negative regulation of myelination ISS--

    KLK8 for ontologies           About GeneDecksing



    (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 KLK8

    2 Novoseek inferred chemical compound relationships for KLK8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 62.6 9 14749636 (2), 11309326 (1), 12147714 (1), 16533772 (1) (see all 6)
    steroid 10.3 2 16533772 (1)



    KLK8 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KLK8 gene (5 alternative transcripts): 
    NM_001281431.1  NM_007196.3  NM_144505.2  NM_144506.2  NM_144507.2  

    Unigene Cluster for KLK8:

    Kallikrein-related peptidase 8
    Hs.104570  [show with all ESTs]
    Unigene Representative Sequence: NM_144505
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391806(uc002puq.1) ENST00000600767 ENST00000594914 ENST00000347619(uc002pus.1)
    ENST00000593490 ENST00000598195 ENST00000594669 ENST00000595238 ENST00000599710
    ENST00000291726(uc002pur.1 uc002puu.1) ENST00000320838(uc002put.1)


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    Additional mRNA sequence: 

    AB008390.2 AB008927.1 AB009849.1 AF095742.1 AY359036.1 EU350538.1 EU350539.1 

    4 DOTS entries:

    DT.409628  DT.92420073  DT.95340356  DT.102821852 

    Selected AceView cDNA sequences (see all 47):

    AB008390 AF095742 BX282429 NM_007196 AL551079 AY566267 BF915088 NM_144507 
    AY551001 CR601157 NM_144506 NM_144505 AA343629 BI041913 BC040887 AY359036 
    BM762825 NM_012315 AB009849 AA587273 BF508514 AA933987 BF038501 AB008927 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KLK8 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                    -           -                 -         
    SP2:                                                                                -                 -         
    SP3:                                                                    -     -     -     -           -         
    SP4:                                                                                -                           
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for KLK8

    (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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    KLK8 expression in normal human tissues (normalized intensities)      KLK8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTGTGCAG
    KLK8 Expression
    About this image


    KLK8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Pons
     
     Heart (Cardiovascular System)
             Heart Tube
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Esophagus (Gastrointestinal Tract)
    KLK8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLK8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104570

    UniProtKB/Swiss-Prot: KLK8_HUMAN, O60259
    Tissue specificity: Isoform 1 is predominantly expressed in the pancreas. Isoform 2 is expressed in adult brain
    and hippocampus. Isoform 1 and isoform 2 are found in fetal brain and placenta. Detected in salivary gland,
    uterus, thymus, breast, testis and kidney but not in spleen, liver, lung or normal ovarian tissue. Displays an
    11.5-fold increase in Alzheimer disease hippocampus compared to controls and is overexpressed in some ovarian
    carcinomas. Expressed at low levels in normal skin while high levels are found in psoriasis vulgaris, seborrheic
    keratosis, lichen planus and squamous cell carcinoma skin samples. Expressed in the keratinocytes

        Custom PCR Arrays for KLK8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLK8

    (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 human and mouse.

    Orthologs for KLK8 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klk81 , 5 kallikrein related-peptidase 81, 5 76.58(n)1
    72.2(a)1
      7 (28.26 cM)5
    2592771  NM_008940.21  NP_032966.11 
     437975775 


    ENSEMBL Gene Tree for KLK8 (if available)
    TreeFam Gene Tree for KLK8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLK8 gene
    KLK102  ENSG000002697412  KLK12  KLK42  PRSS372  KLK112  KLK72  KLK142  
    KLK92  KLK122  KLK132  KLK62  KLK22  KLK152  KLK52  PRSS12  
    PRSS582  PRSS32  KLK32  
    Selected SIMAP similar genes for KLK8 using alignment to 6 protein entries:     KLK8_HUMAN (see all proteins) (see all similar genes):
    KLK11    KLK9    PRSS1    KLK6    KLK4    KLK13
    KLK15    KLK2    KLK7    KLK1    PRSS3    KLK12
    TRY8    KLK14    PRSS2    GZMM    KLK5    CMA1

    KLK8 for paralogs           About GeneDecksing



    (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 KLK8 (see all 194)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18976051,2
    C,F,A,H--51498778(-) TAAACC/TCAGCT 4 -- ds50017Minor allele frequency- T:0.44NA WA 16
    rs1404595671,2
    --51498786(+) TTACAG/TATGCC 4 -- ds50010--------
    rs559049231,2
    C,F--51498845(-) CCAACA/GTGGCA 4 -- ds50011Minor allele frequency- G:0.04EA 48
    rs16545431,2
    C,F,O,A,H--51498989(-) AAAGCG/ATTTAC 4 -- ds500128Minor allele frequency- A:0.50NS EA NA WA CSA 2486
    rs16545421,2
    C,F,O,A,H--51499116(-) TTTTCT/CGGAAG 4 -- ds500116Minor allele frequency- C:0.42MN NS EA NA WA CSA 1110
    rs16129021,2
    C,F,A,H--51499195(-) GGCAGA/GCTAGG 4 -- ds500123Minor allele frequency- G:0.33EA NS NA WA CSA 3642
    rs1175753561,2
    C--51499281(+) TGTGAG/ATTTAT 4 -- ut311Minor allele frequency- A:0.01EA 120
    rs1384993741,2
    C--51499321(+) CAGCCC/GTTGCT 7 N K mis1 ut310--------
    rs562962961,2
    C,F--51499377(-) CTGGCG/ATCTAT 7 /I /V mis1 ut312Minor allele frequency- A:0.00EA NA 4600
    rs2020841501,2
    --51499511(+) GATGTC/TCACAA 4 -- int10--------

    HapMap Linkage Disequilibrium report for KLK8 (51499263 - 51505967 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KLK8: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLK8
    DNA2.0 Custom Variant and Variant Library Synthesis for KLK8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605644    OMIM disorders: --

    Selected diseases for KLK8 (see all 23):    About MalaCards
    intracranial hypotension    seborrheic keratosis    eczema herpeticum    spondylolisthesis
    radiculopathy    spinal stenosis    spinal cord injury    keratosis
    ovarian cancer    paraganglioma    psoriasis    lichen planus
    bipolar disorder    cervical cancer    cervicitis    lung cancer
    alzheimer's disease    squamous cell carcinoma    prostate cancer    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for KLK8:
    Paraganglioma     Radiculopathy

    KLK8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for KLK8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperkeratosis 57.1 1 12147714 (1)
    residual disease 57 3 11309326 (1), 19277417 (1)
    ovarian cancer 54.9 12 11309326 (5), 16533772 (1), 17178872 (1), 19277417 (1)
    ovarian carcinoma 49.8 4 11309326 (1), 16533772 (1), 14749636 (1)
    psoriasis 31.9 1 12147714 (1)
    adenocarcinoma 11.6 2 14749636 (1)
    tumors 0.0112 13 14749636 (4), 11309326 (3), 17178872 (2)

    Genetic Association Database (GAD): KLK8
    Human Genome Epidemiology (HuGE) Navigator: KLK8 (4 documents)

    Export disorders for KLK8 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 KLK8 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with KLK8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel form of human neuropsin, a brain-related serine protease, is generated by alternative splicing and is expressed preferentially in human adult brain. (PubMed id 10102990)1, 2, 3, 9 Mitsui S.... Yamaguchi N. (Eur. J. Biochem. 1999)
    2. Sequence analysis and expression of human neuropsin cDNA and gene. (PubMed id 9714609)1, 2, 3 Yoshida S.... Shiosaka S. (Gene 1998)
    3. The human KLK8 (neuropsin/ovasin) gene: identification of two novel splice variants and its prognostic value in ovarian cancer. (PubMed id 11309326)1, 2, 9 Magklara A.... Diamandis E.P. (Clin. Cancer Res. 2001)
    4. Genetic variations of human neuropsin gene and psychiatric disorders: polymorphism screening and possible association with bipolar disorder and cognitive functions. (PubMed id 18354391)1, 4, 9 Izumi A....Kunugi H. (Neuropsychopharmacology 2008)
    5. A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory. (PubMed id 17487847)1, 2, 9 Lu Z.-X.... Su B. (Hum. Mutat. 2007)
    6. Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer. (PubMed id 20424135)1, 4 Klein R.J....Lilja H. (Cancer Prev Res (Phila) 2010)
    7. SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor. (PubMed id 19194479)1, 2 Brattsand M.... Egelrud T. (J. Invest. Dermatol. 2009)
    8. SerpinB6 is an inhibitor of kallikrein-8 in keratinocytes. (PubMed id 17761692)1, 2 Scott F.L.... Bird P.I. (J. Biochem. 2007)
    9. Proceedings of the 1st International Symposium on Kallikreins, Lausanne, Switzerland, September 1-3 , 2005. (PubMed id 16800723)1, 3 (Biol. Chem. 2006)
    10. A comprehensive nomenclature for serine proteases with homology to tissue kallikreins. (PubMed id 16800724)1, 3 Lundwall A....Yousef G.M. (Biol. Chem. 2006)

    (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: 11202 HGNC: 6369 AceView: KLK8andKLK9 Ensembl:ENSG00000129455 euGenes: HUgn11202
    ECgene: KLK8 H-InvDB: KLK8

    (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 KLK8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KLK8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KLK8 gene:
    Search GeneIP for patents involving KLK8

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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