Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PI3 Gene

protein-coding   GIFtS: 58
GCID: GC20P043803

Peptidase Inhibitor 3, Skin-Derived

(Previous names: protease inhibitor 3, skin-derived (SKALP))
  See PI3-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)
About This Section

TryGeneCards Plus

Aliases
Peptidase Inhibitor 3, Skin-Derived1 2     WAP32 3
Skin-Derived Antileukoproteinase1 2 3     WFDC142 3
Protease Inhibitor 3, Skin-Derived (SKALP)1 2     WAP Four-Disulfide Core Domain Protein 142 3
trappin-21 2     cementoin2
Elastase-Specific Inhibitor2 3     elafin2
Protease Inhibitor WAP32 3     pre-elafin2
ESI2 3     WAP Four-Disulfide Core Domain 142
PI-32 3     Peptidase Inhibitor 33
SKALP2 3     

External Ids:    HGNC: 89471   Entrez Gene: 52662   Ensembl: ENSG000001241027   OMIM: 1822575   UniProtKB: P199573   

Export aliases for PI3 gene to outside databases

Previous GC identifers: GC20P043531 GC20P044441 GC20P044489 GC20P044490 GC20P043236 GC20P040545


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

TryGeneCards Plus

Entrez Gene summary for PI3 Gene:
This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive
and Gram-negative bacteria. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a
member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters:
centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by
bacterial lipopolysaccharides and cytokines. (provided by RefSeq, Oct 2008)

GeneCards Summary for PI3 Gene:
PI3 (peptidase inhibitor 3, skin-derived) is a protein-coding gene. Diseases associated with PI3 include farmer's lung, and erysipelas. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ELAF_HUMAN, P19957
Function: Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue
proteolysis

Gene Wiki entry for PI3 (Elafin) 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the PI3 gene promoter:
         GR   C/EBPbeta   p53   GR-beta   GR-alpha   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPI3 promoter sequence
   Search Chromatin IP Primers for PI3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PI3


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

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

PI3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PI3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P043803:  view genomic region     (about GC identifiers)

Start:
43,803,517 bp from pter      End:
43,805,185 bp from pter
Size:
1,669 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ELAF_HUMAN, P19957 (See protein sequence)
Recommended Name: Elafin precursor  
Size: 117 amino acids; 12270 Da
2 PDB 3D structures from and Proteopedia for PI3:
1FLE (3D)        2REL (3D)    
Secondary accessions: E1P618 Q6FG74

Explore the universe of human proteins at neXtProt for PI3: NX_P19957

Explore proteomics data for PI3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PI3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002629.1  
    ENSEMBL proteins: 
     ENSP00000243924  

    PI3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for PI3 (Trappin-2/Elafin)
    Enzo Life Sciences proteins for PI3
    OriGene Purified Protein for PI3
    OriGene Protein Over-expression Lysate for PI3
    OriGene MassSpec for PI3
    OriGene Custom Protein Services for PI3
    GenScript Custom Purified and Recombinant Proteins Services for PI3
    Novus Biologicals PI3 Proteins
    Novus Biologicals PI3 Lysates
    Sino Biological Recombinant Protein for PI3
    Sino Biological Cell Lysate for PI3
    ProSpec Recombinant Protein for PI3
    Cloud-Clone Corp. Proteins for PI3

     
    Search eBioscience for Proteins for PI3 

    PI3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for PI3 (Trappin-2/Elafin)
    OriGene Antibodies for PI3
    OriGene Custom Antibody Services for PI3
    Novus Biologicals PI3 Antibodies
    Abcam antibodies for PI3
    Cloud-Clone Corp. Antibodies for PI3
    Search ThermoFisher Antibodies for PI3
    LSBio Antibodies in human, mouse, rat for PI3

    PI3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PI3
    R&D Systems ELISAs for PI3 (Trappin-2/Elafin)         (see all)
    GenScript Custom Assay Services for PI3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PI3
    Cloud-Clone Corp. CLIAs for PI3
    Search eBioscience for ELISAs for PI3 


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

    TryGeneCards Plus
    HGNC Gene Families:
    WFDC: WAP four-disulfide core domain containing

    3 InterPro protein domains:
     IPR002098 SVP_I
     IPR008197 WAP-type_4-diS_core
     IPR019541 Trappin_transglut-bd_rpt

    Graphical View of Domain Structure for InterPro Entry P19957

    ProtoNet protein and cluster: P19957

    1 Blocks protein domain: IPB008197 4-disulphide core signature

    UniProtKB/Swiss-Prot: ELAF_HUMAN, P19957
    Domain: Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase
    inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to
    specific sites on extracellular matrix proteins
    Similarity: Contains 1 WAP domain


    Find genes that share domains with PI3           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ELAF_HUMAN, P19957
    Function: Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue
    proteolysis

         Genatlas biochemistry entry for PI3:
    elafin,serine proteinase inhibitor,epidermal,member of the troppin family,induced in epidermis by cellular
    stress,involved in the regulation of inflammation and in protection against tissue damage,regulated by neutrophil
    elastase in type II alveolar epithelial cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS2394696
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0030414peptidase inhibitor activity ----
         
    Find genes that share ontologies with PI3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PI3:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PI3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PI3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PI3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PI3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PI3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PI3
    SwitchGear 3'UTR luciferase reporter plasmidPI3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PI3
    Predesigned siRNA for gene silencing in human, mouse, rat PI3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PI3

    Clone
    Products:
         
    OriGene clones in human, mouse for PI3 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PI3 (NM_002638)
    Sino Biological Human cDNA Clone for PI3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PI3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PI3
    Addgene plasmids for PI3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PI3
    Browse ESI BIO Cell Lines and PureStem Progenitors for PI3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PI3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ELAF_HUMAN, P19957: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    endosome2
    mitochondrion2
    nucleus2
    vacuole2
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005578proteinaceous extracellular matrix TAS8476637

    Find genes that share ontologies with PI3           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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PI3
    Interactions:

        GeneGlobe Interaction Network for PI3

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for PI3 (P199572, 3 ENSP000002439244) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LORP234903, ENSP000003577314I2D: score=1 STRING: ENSP00000357731
    CELA1Q9UNI13, ENSP000002936364I2D: score=2 STRING: ENSP00000293636
    CSTAP010403, ENSP000002644744I2D: score=1 STRING: ENSP00000264474
    EVPLQ928173, ENSP000003016074I2D: score=2 STRING: ENSP00000301607
    KRT1P042643, ENSP000002522444I2D: score=1 STRING: ENSP00000252244
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007620copulation IEA--
    GO:0010951negative regulation of endopeptidase activity TAS2394696

    Find genes that share ontologies with PI3           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)
    About This Section

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

    Browse Tocris compounds for PI3 (ELAF)

    Selected Novoseek inferred chemical compound relationships for PI3 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hbd2 76.3 3 17664005 (1), 17362705 (1), 18981165 (1)
    serine 61.3 40 17964057 (3), 15899702 (2), 16300411 (2), 19241385 (2) (see all 27)
    whey 59 8 9252357 (1), 17044815 (1), 17964057 (1), 17664005 (1) (see all 7)
    ly294002 52.9 6 15090468 (1), 18701693 (1), 15607817 (1), 15194442 (1) (see all 5)
    dithranol 51.3 2 12542536 (1), 12218287 (1)
    sodium dodecylsulfate 24.6 6 9534887 (3), 9540975 (2), 8011497 (1)
    wortmannin 23.7 1 15602573 (1)
    phosphatidylinositol 23.3 2 15090468 (1), 1708917 (1)
    retinoic acid 20.8 3 18588690 (1), 10222145 (1), 12218287 (1)
    ctab 12.6 2 9540975 (1), 7582300 (1)



    Find genes that share compounds with PI3           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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PI3 gene: 
    NM_002638.3  

    Unigene Cluster for PI3:

    Peptidase inhibitor 3, skin-derived
    Hs.112341  [show with all ESTs]
    Unigene Representative Sequence: CF596521
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000243924(uc002xng.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PI3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PI3
    SwitchGear 3'UTR luciferase reporter plasmidPI3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PI3
    Predesigned siRNA for gene silencing in human, mouse, rat PI3
    Clone
    Products:
         
    OriGene clones in human, mouse for PI3 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PI3 (NM_002638)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PI3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PI3
    Addgene plasmids for PI3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PI3
    OriGene qSTAR qPCR primer pairs in human, mouse for PI3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PI3
      QuantiTect SYBR Green Assays in human, mouse, rat PI3
      QuantiFast Probe-based Assays in human, mouse, rat PI3

    Additional mRNA sequence: 

    BC010952.1 CR542234.1 Z18538.1 

    2 DOTS entries:

    DT.213338  DT.92444421 

    Selected AceView cDNA sequences (see all 132):

    BF838555 AW137392 NM_002638 AA586978 AA584342 AI392753 Z18538 AA583997 
    CR542234 AA586974 AI393896 AA586943 AI582329 AI285400 BF824934 AA586870 
    CB150036 AI830232 BX283256 AW844984 T28445 BG490472 AA582866 AW845125 

    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)
    About This Section

    TryGeneCards Plus

    PI3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAATCCCC
    PI3 Expression
    About this image


    PI3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Colon (Gastrointestinal Tract)
     
     Esophagus (Gastrointestinal Tract)
    PI3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PI3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112341
        Custom PCR Arrays for PI3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PI3
    OriGene qSTAR qPCR primer pairs in human, mouse for PI3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PI3
    QuantiTect SYBR Green Assays in human, mouse, rat PI3
    QuantiFast Probe-based Assays in human, mouse, rat PI3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PI3

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of mammals.

    Orthologs for PI3 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia PI31 peptidase inhibitor 3, skin-derived 76.95(n)
    71.96(a)
      477241  XM_005635108.1  XP_005635165.1 


    ENSEMBL Gene Tree for PI3 (if available)
    TreeFam Gene Tree for PI3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PI3 (see all 131)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60736681,2
    H--43801612(+) aatgtA/Gtattg 1 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs576099721,2
    C,F--43801628(+) AGAATG/AAATAT 1 -- us2k12Minor allele frequency- A:0.06WA 120
    rs1414311531,2
    C--43801655(+) TTTCA-/ATATA 
            
    TAGAA
    1 -- us2k10--------
    rs607176101,2
    C--43801657(+) TCATATAATA/
            
    GAATA
    1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs130448261,2
    C,F,H--43801865(+) caaggG/Actaat 1 -- us2k132Minor allele frequency- A:0.11NS EA NA WA CSA 3031
    rs60320381,2
    H--43801886(+) tcttaG/Agaagc 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs60320391,2
    C,H--43802012(+) ATATAG/AGTATT 1 -- us2k16Minor allele frequency- A:0.00NS EA NA 378
    rs561919521,2
    C,F--43802487(+) GTCTCA/GGTGTA 1 -- us2k19Minor allele frequency- G:0.10NA WA CSA 252
    rs557674221,2
    C,F--43802497(+) ATTAGA/GGTCGT 1 -- us2k19Minor allele frequency- G:0.10NA WA CSA 252
    rs759192901,2
    C,F--43802501(+) GAGTCG/ATTTTT 1 -- us2k11Minor allele frequency- A:0.23WA 118

    HapMap Linkage Disequilibrium report for PI3 (43803517 - 43805185 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PI3: --
    Human Gene Mutation Database (HGMD): PI3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PI3
    DNA2.0 Custom Variant and Variant Library Synthesis for PI3

    (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

    TryGeneCards Plus
    OMIM gene information: 182257    OMIM disorders: --

    16 diseases for PI3:    
    About MalaCards
    farmer's lung    erysipelas    impetigo herpetiformis    rhinotracheitis
    genital herpes    generalized pustular psoriasis    engraftment syndrome    contact dermatitis
    impetigo    ascariasis    allergic contact dermatitis    trichuriasis
    netherton syndrome    hepatopulmonary syndrome    sinusitis    cystic fibrosis

    2 diseases from the University of Copenhagen DISEASES database for PI3:
    Rhinotracheitis     Cancer

    Find genes that share disorders with PI3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PI3 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    uterine infection 72.4 1 12970320 (1)
    psoriasis 67 29 8931865 (4), 7829874 (3), 9727750 (3), 9510372 (1) (see all 16)
    pustular psoriasis 62.6 14 8931865 (4), 9727750 (3), 7604637 (2), 10877128 (1)
    parainfluenza 57.7 9 7474124 (2), 1280227 (1), 8985396 (1), 15710345 (1) (see all 8)
    skin diseases 51 5 11069448 (2), 7829874 (1), 8844125 (1), 7983189 (1)
    keratocysts 47.1 3 8860145 (1), 8018055 (1), 8809307 (1)
    erysipelas 47.1 1 7829874 (1)
    inflammation 43.3 17 7829874 (1), 8931871 (1), 9988537 (1), 8427705 (1) (see all 15)
    acute respiratory distress 35.7 5 19251943 (2), 19197381 (1), 10414400 (1)
    lung diseases 31.7 7 11868825 (2), 17964057 (1), 11667971 (1), 16719916 (1) (see all 6)

    Genetic Association Database (GAD): PI3
    Human Genome Epidemiology (HuGE) Navigator: PI3 (7 documents)

    Export disorders for PI3 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

    TryGeneCards Plus

    PubMed articles for PI3 gene, integrated from 10 sources (see all 243):
    (articles sorted by number of sources associating them with PI3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic polymorphisms of peptidase inhibitor 3 (elafin) are associated with acute respiratory distress syndrome. (PubMed id 19251943)1, 4, 9 Tejera P....Christiani D.C. (Am. J. Respir. Cell Mol. Biol. 2009)
    2. SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking. (PubMed id 7685029)1, 2, 9 Molhuizen H.O.F.... Schalkwijk J. (J. Biol. Chem. 1993)
    3. SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis. (PubMed id 9727750)1, 4, 9 Kuijpers A.L....Schalkwijk J. (Clin. Genet. 1998)
    4. Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions. (PubMed id 8476637)1, 2, 9 Sallenave J.-M. and Silva A. (Am. J. Respir. Cell Mol. Biol. 1993)
    5. Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12--&gt;q13. (PubMed id 8287685)1, 3, 9 Molhuizen H.O....Schalkwijk J. (Cytogenet. Cell Genet. 1994)
    6. Isolation of elafin and elastase-specific inhibitor (ESI) from bronchial secretions. Evidence of sequence homology and immunological cross-reactivity. (PubMed id 1536690)1, 2, 9 Sallenave J.-M.... Ryle A.P. (Biol. Chem. Hoppe-Seyler 1992)
    7. Skin-derived antileukoproteinase (SKALP), an elastase inhibitor from human keratinocytes. Purification and biochemical properties. (PubMed id 2001428)1, 2, 9 Schalkwijk J.... de Jongh G.J. (Biochim. Biophys. Acta 1991)
    8. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. (PubMed id 12206714)1, 3 Clauss A.... Lundwall A. (Biochem. J. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5266 HGNC: 8947 AceView: PI3 Ensembl:ENSG00000124102 euGenes: HUgn5266
    ECgene: PI3 H-InvDB: PI3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PI3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PI3 gene:
    Search GeneIP for patents involving PI3

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

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for PI3 (Trappin-2/Elafin)   Browse Cell Culture Products  
     ELISAs for PI3 (Trappin-2/Elafin)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for PI3 (Trappin-2/Elafin)   Browse Stem Cell Products  
     Browse cDNA Clones   Proteome Profiler Antibody Arrays for PI3 (Trappin-2/Elafin)  
     OriGene Antibodies for PI3   OriGene RNAi products in human, mouse, rat for PI3  
     OriGene qPCR primer pairs and template standards for PI3   OriGene Protein Over-expression Lysate for PI3  
     OriGene MassSpec something-or-other for PI3   OriGene clones in human, mouse for PI3  
     OriGene qSTAR qPCR primer pairs in human, mouse for PI3   OriGene Purified Protein for PI3  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PI3   OriGene Custom Protein Services for PI3  

     
     
     Block miRNA regulation of human, mouse, rat PI3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PI3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PI3 Predesigned siRNA for gene silencing in human, mouse, rat PI3
     QuantiFast Probe-based Assays in human, mouse, rat PI3 QuantiTect SYBR Green Assays in human, mouse, rat PI3
     Custom PCR Arrays for PI3 Search Chromatin IP Primers for PI3
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PI3  GeneGlobe Interaction Network for PI3
     Regulatory tfbs in PI3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for PI3 GenScript cDNA clones with any tag delivered in your preferred vector for PI3
     GenScript Custom Assay Services for PI3 GenScript Custom overexpressing Cell Line Services for PI3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PI3 (ELAF)
     Proteins for PI3
     Cell Lysates for PI3
     cDNA Clones for PI3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Proteins for PI3
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PI3 antibodies
     PI3 proteins
     PI3 lysates
     Antibodies for PI3
     See all of Abcam's Antibodies, Kits and Proteins for PI3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for PI3
     Proteins for PI3
     Antibodies for PI3
     ELISAs for PI3
     CLIAs for PI3



     Browse ESI BIO Cell Lines and PureStem Progenitors for PI3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PI3
     SwitchGear 3'UTR luciferase reporter plasmids for PI3
     SwitchGear Promoter luciferase reporter plasmids for PI3
     Search ThermoFisher Antibodies for PI3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PI3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PI3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PI3
     LSBio Antibodies in human, mouse, rat for PI3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Addgene plasmids for PI3
      Search eBioscience for proteins for PI3
      Search eBioscience for elisas for PI3
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PI3 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4