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ELANE Gene

protein-coding   GIFtS: 65
GCID: GC19P000854

Elastase, Neutrophil Expressed

(Previous names: elastase 2, neutrophil)
(Previous symbol: ELA2)
  See 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
Elastase, Neutrophil Expressed1 2     GE2
ELA21 2 3 5     HNE2
Elastase 2, Neutrophil1 2     NE2
Leukocyte Elastase1 2     PMN-E2
medullasin1 2     elastase-22
Neutrophil Elastase1 2     Granulocyte-Derived Elastase2
Bone Marrow Serine Protease2 3     Polymorphonuclear Elastase2
Human Leukocyte Elastase2 3     EC 3.4.21.373
HLE2 3     Elastase-23
PMN Elastase2 3     Medullasin3
SCN12 5     EC 3.4.218

External Ids:    HGNC: 33091   Entrez Gene: 19912   Ensembl: ENSG000001975617   OMIM: 1301305   UniProtKB: P082463   

Export aliases for ELANE gene to outside databases

Previous GC identifers: GC19P000804 GC19P000852 GC19P000621


(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 ELANE Gene:
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have
six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins
within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular
matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and
inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein
degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as
Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe
congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1
and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products
are packaged together into azurophil granules during neutrophil differentiation. (provided by RefSeq, May 2009)

GeneCards Summary for ELANE Gene:
ELANE (elastase, neutrophil expressed) is a protein-coding gene. Diseases associated with ELANE include pulmonary emphysema, and otitis externa. GO annotations related to this gene include peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is GZMH.

UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246
Function: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent
neutrophil enzyme release and chemotaxis

summary for ELANE Gene:
Elastases are a group of serine proteases that specifically degrade elastin. Elastin, together with
collagen, is a key protein that contributes to the mechanical properties of connective tissue. Leukocyte
elastase is a cytoplasmic enzyme that modifies the function of natural killer cells, monocytes and
granulocytes. It specifically cleaves Val-X, Ala-X, Leu-X or Met-X peptide bonds. Elastases have a
physiological role in processes such as neutrophil migration, phagocytosis and tissue remodeling, and are
known to contribute to the pathology of pulmonary emphysema, cystic fibrosis, infections, inflammation and
atherosclerosis.

Gene Wiki entry for ELANE (Neutrophil elastase) 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  NT_011295.12  NT_187622.1  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ELANE gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidELANE promoter sequence
   Search Chromatin IP Primers for ELANE

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


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P000854:  view genomic region     (about GC identifiers)

Start:
851,014 bp from pter      End:
856,246 bp from pter
Size:
5,233 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246 (See protein sequence)
Recommended Name: Neutrophil elastase precursor  
Size: 267 amino acids; 28518 Da
Subunit: Interacts with NOTCH2NL
Sequence caution: Sequence=CAA29300.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for ELANE (see all 9):
1B0F (3D)        1H1B (3D)        1HNE (3D)        1PPF (3D)        1PPG (3D)        2RG3 (3D)    
Secondary accessions: P09649 Q6B0D9 Q6LDP5

Explore the universe of human proteins at neXtProt for ELANE: NX_P08246

Explore proteomics data for ELANE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn88, Asn124, Asn173
  • 2 DME Specific Peptides for ELANE (P08246)
     GDSGSPL  VLQELNVTVVT 


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

    REFSEQ proteins: NP_001963.1  
    ENSEMBL proteins: 
     ENSP00000466090   ENSP00000263621  
    Reactome Protein details: P08246

    ELANE Human Recombinant Protein Products:

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    Novus Biologicals ELANE Proteins
    Novus Biologicals ELANE Lysate
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    Sino Biological Cell Lysate for ELANE
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    Browse Proteins at Cloud-Clone Corp.

    ELANE Antibody Products:

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    LSBio Antibodies in human, mouse, rat for ELANE

    ELANE Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P08246

    ProtoNet protein and cluster: P08246

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


    UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246
    Similarity: Belongs to the peptidase S1 family. Elastase subfamily
    Similarity: Contains 1 peptidase S1 domain


    ELANE 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: ELNE_HUMAN, P08246
    Function: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent
    neutrophil enzyme release and chemotaxis
    Catalytic activity: Hydrolysis of proteins, including elastin. Preferential cleavage: Val- -Xaa > Ala- -Xaa

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.371

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001106RNA polymerase II transcription corepressor activity IMP19506020
    GO:0002020protease binding IPI6980881
    GO:0003824catalytic activity ----
    GO:0004175endopeptidase activity IDA12887060
    GO:0004252serine-type endopeptidase activity IEA--
         
    ELANE for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ELANE:
     Decreased homologous recombina 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Elane):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  normal 
     tumorigenesis 

    ELANE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ELANE: Elanetm1Sds Elane/Prtn3Elane/tm1Deje

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

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

    miRNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ELANE (NM_001972)
    Sino Biological Human cDNA Clone for ELANE
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ELANE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELANE

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELANE


    (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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome3
    cytoskeleton2
    cytosol2
    mitochondrion2
    nucleus2
    plasma membrane2
    vacuole2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm IDA19506020
    GO:0009986cell surface IDA12114510
    GO:0017053transcriptional repressor complex IDA19506020
    GO:0030141secretory granule IDA11907569

    ELANE 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 ELANE About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    2RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    3Matrix Metalloproteinases
    Activation of Matrix Metalloproteinases0.37
    4Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    5Selected targets of C EBPbeta
    Selected targets of C EBPbeta

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ELANE
        Cell adhesion Cell-matrix glycoconjugates

    2 BioSystems Pathways for ELANE
        amb2 Integrin signaling
    C-MYB transcription factor network


    3 Reactome Pathways for ELANE
        Degradation of the extracellular matrix
    Collagen degradation
    Activation of Matrix Metalloproteinases


    2 Kegg Pathways  (Kegg details for ELANE):
        Transcriptional misregulation in cancer
    Systemic lupus erythematosus


    ELANE for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ELANE: 
              HIV Host Response in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ELANE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ELANE (P082461, 2, 3 ENSP000002636214) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GZMBP101442, 3, ENSP000002163414MINT-6803398 I2D: score=1 STRING: ENSP00000216341
    SERPINA1P010093, ENSP000003480684I2D: score=5 STRING: ENSP00000348068
    LRP1Q079543, ENSP000002430774I2D: score=3 STRING: ENSP00000243077
    SERPINF2P086973, ENSP000003218534I2D: score=3 STRING: ENSP00000321853
    SERPING1P051553, ENSP000002784074I2D: score=3 STRING: ENSP00000278407
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP19506020
    GO:0001878response to yeast IEA--
    GO:0002438acute inflammatory response to antigenic stimulus IEA--
    GO:0006508proteolysis IDA11907569
    GO:0006874cellular calcium ion homeostasis NAS15140022

    ELANE 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
       Enzo Life Sciences drugs & compounds for ELANE
      Browse compounds at ApexBio 

    Compounds for ELANE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Sivelestat sodium saltSelective leukocyte elastase inhibitor[150374-95-1]
    SSR 69071 Potent, orally active human leukocyte elastase inhibitor [344930-95-6]

    5 DrugBank Compounds for ELANE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FilgrastimG-CSF (see all 3)121181-53-1targetother/unknown12393522 14657210 15353486 17475913 17311988 16245075
    PegfilgrastimG-CSF (see all 4)208265-92-3target--12958067 14657210 17475913 16245075 15353486
    Alpha-1-proteinase inhibitorAlpha 1-antitrypsin (see all 4)9041-92-3targetinhibitor16773239 11752352 20521180
    Mdl 101,146-- 149859-17-6target--17139284 17016423
    ONO-6818-- 208848-19-5targetinhibitor14530017 11752352

    Selected Novoseek inferred chemical compound relationships for ELANE gene (see all 133)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sivelestat 89 64 17950695 (3), 16039215 (3), 16897233 (2), 16428865 (2) (see all 39)
    serine 85.3 562 1669448 (3), 7847352 (3), 10101005 (3), 10231512 (3) (see all 99)
    sivelestat sodium hydrate 82.6 26 16554988 (3), 12890901 (1), 16502863 (1), 10852782 (1) (see all 20)
    fmlp 80.7 184 15294123 (4), 15229106 (4), 8997524 (4), 9695746 (3) (see all 99)
    elastatinal 79.9 13 9122713 (1), 10722050 (1), 17251461 (1), 1540391 (1) (see all 11)
    ulinastatin 78.9 91 11700404 (6), 8062321 (5), 8712383 (4), 8230902 (4) (see all 31)
    mr 889 75.2 15 8309349 (6), 2310417 (4), 8836663 (2), 1482382 (1)
    methoxysuccinyl-alanyl-alanyl-prolyl-valine chloromethyl ketone 75.2 4 7616444 (1), 2310097 (1), 12008933 (1)
    desmosine 72 14 8075606 (2), 16484139 (1), 16769715 (1), 17238189 (1) (see all 11)
    l 658758 71.4 1 8330930 (1)



    ELANE 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,
    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 ELANE gene: 
    NM_001972.2  

    Unigene Cluster for ELANE:

    Elastase, neutrophil expressed
    Hs.99863  [show with all ESTs]
    Unigene Representative Sequence: NM_001972
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590230 ENST00000263621(uc002lqb.3)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ELANE
      QuantiFast Probe-based Assays in human, mouse, rat ELANE

    Additional mRNA sequence: 

    BC074816.2 BC074817.2 D00187.1 J03545.1 M27783.1 M34379.1 X05875.1 

    1 DOTS entry:

    DT.309749 

    Selected AceView cDNA sequences (see all 59):

    BU742825 D00187 NM_001972 CD613608 CD613598 BC074817 AJ714279 CD613588 
    BP428698 BM929508 CD613591 AJ712842 X05875 BX114651 BC074816 M34379 
    CD613606 BP429309 J03545 CD613593 CD613596 CD613590 BV186543 M27783 

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


    ELANE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Bone marrow-derived hematopoietic stem cells (family)
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ELANE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ELANE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99863

    UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246
    Tissue specificity: Bone marrow cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ELANE: 
              HIV Host Response in human mouse rat
              Tumor Metastasis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ELANE
    OriGene qSTAR qPCR primer pairs in human, mouse for ELANE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ELANE
    QuantiTect SYBR Green Assays in human, mouse, rat ELANE
    QuantiFast Probe-based Assays in human, mouse, rat ELANE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELANE

    (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 ELANE gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Elane1 , 5 elastase, neutrophil expressed1, 5 72.56(n)1
    73.08(a)1
      10 (39.72 cM)5
    507011  NM_015779.21  NP_056594.21 
     798863125 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ELANE gene
    GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  CFD2  CMA12  AZU12  
    GZMM2  GZMA2  GZMB2  
    Selected SIMAP similar genes for ELANE using alignment to 1 protein entry:     ELNE_HUMAN(see all similar genes):
    ELA2    PRTN3    AZU1    DF    LPA    CFD
    CTSG    GZMA    GZMB    PRSS3    GZMH    GZMM
    KLK15    CMA1    CTRB1    CTRL    GZMK    KLK4

    ELANE 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 ELANE (see all 364)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289316111,2,,4
    CNeutropenia, severe congenital 1, autosomal dominant (SCN1)4 pathogenic1783125(+) CGCACC/TGCGTG 2 R C mis1 ese30--------
    VAR_0706964
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0706962 P L mis40--------
    VAR_0386244
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0386242 G V mis40--------
    VAR_0386094
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0386092 C Y mis40--------
    VAR_0707574
    Cyclic haematopoiesis (CH)4--see VAR_0707572 L F mis40--------
    VAR_0386144
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0386142 G E mis40--------
    VAR_0707474
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0707472 C F mis40--------
    VAR_0707554
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0707552 G C mis40--------
    VAR_0707044
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0707042 L R mis40--------
    VAR_0707094
    Neutropenia, severe congenital 1, autosomal dominant (SCN1)4--see VAR_0707092 C S mis40--------

    HapMap Linkage Disequilibrium report for ELANE (851014 - 856246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ELANE (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717799CNV Deletion23290073
    nsv910329CNV Loss21882294
    nsv470101CNV Loss18288195
    dgv3561n71CNV Loss21882294
    dgv3550n71CNV Loss21882294
    nsv910292CNV Loss21882294
    dgv3558n71CNV Loss21882294
    dgv3555n71CNV Loss21882294
    dgv3552n71CNV Loss21882294
    dgv3551n71CNV Loss21882294

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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ELANE
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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: 130130   
    OMIM disorders: 162800  202700  
    UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246
  • Cyclic haematopoiesis (CH) [MIM:162800]: Autosomal dominant disease in which blood-cell production from
    the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers
    and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection.
    Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]: A disorder of hematopoiesis
    characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute
    neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for ELANE (see all 176):    
    About MalaCards
    pulmonary emphysema    otitis externa    neutropenia, severe congenital 1, autosomal dominant    cyclic hematopoiesis
    aspiration pneumonia    cerebral aneurysms    zygomycosis    bronchial disease
    elane-related neutropenia    neutropenia    conjunctivitis ligneous    alpha 1-antitrypsin deficiency
    rapidly progressive glomerulonephritis    bronchopneumonia    capillary leak syndrome    acquired cutis laxa
    arthus reaction    pustulosis palmaris et plantaris    acute febrile neutrophilic dermatosis    generalized pustular psoriasis

    9 diseases from the University of Copenhagen DISEASES database for ELANE:
    Lung disease     Cystic fibrosis     Alpha 1-antitrypsin deficiency     Neutropenia
    Vascular disease     Periodontal disease     Alzheimer's disease     Hepatocellular carcinoma
    Pancreatitis

    ELANE for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ELANE gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neutropenia, severe congenital 86.7 76 18043239 (4), 12468929 (2), 17053055 (2), 17436313 (2) (see all 40)
    pulmonary emphysema 78.6 52 8075606 (3), 2368980 (2), 9216188 (2), 1333306 (2) (see all 32)
    neutropenia cyclic 76.4 59 11001877 (3), 12897784 (3), 11572070 (2), 18043239 (2) (see all 22)
    cystic fibrosis 74.9 148 16627747 (5), 8693445 (4), 9476859 (3), 7638807 (2) (see all 95)
    inflammation 74.5 271 7952645 (4), 10459586 (4), 10853853 (3), 10422648 (3) (see all 99)
    bronchoalveolar lavage fluid 72.4 75 1489852 (4), 9543280 (3), 7712280 (3), 1919096 (2) (see all 53)
    alpha 1-antitrypsin deficiency 68.2 2 2117160 (1), 11153169 (1)
    lung diseases 68.2 77 12800053 (3), 11834675 (3), 8256917 (3), 2187705 (2) (see all 53)
    postperfusion syndrome 64.1 7 11806432 (2)
    pulmonary disease chronic obstructive 63.1 39 8836663 (2), 2024812 (2), 1579727 (1), 11249578 (1) (see all 29)

    GeneTests: ELANE
    GeneReviews: ELANE
    Human Genome Epidemiology (HuGE) Navigator: ELANE (1 document)

    Export disorders for ELANE 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 ELANE gene, integrated from 10 sources (see all 2482):
    (articles sorted by number of sources associating them with ELANE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human neutrophil elastase gene. (PubMed id 2902087)1, 2, 3 Takahashi H.... Crystal R.G. (J. Biol. Chem. 1988)
    2. Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells. (PubMed id 2322278)1, 2, 9 Okano K.... Naruto M. (Biochem. Biophys. Res. Commun. 1990)
    3. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. (PubMed id 11675333)1, 2, 9 Ancliff P.J.... Linch D.C. (Blood 2001)
    4. Human leukocyte elastase and cathepsin G are specific inhibitors of C5a-dependent neutrophil enzyme release and chemotaxis. (PubMed id 15140022)1, 2, 9 Tralau T.... Wiedow O. (Exp. Dermatol. 2004)
    5. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. (PubMed id 17436313)1, 2, 9 Salipante S.J.... Horwitz M.S. (Hum. Mutat. 2007)
    6. A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. (PubMed id 14673143)1, 2, 9 Duan Z.... Horwitz M. (Mol. Cell. Biol. 2004)
    7. Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis. (PubMed id 12393522)1, 7, 9 El Ouriaghli F....Barrett A.J. (Blood 2003)
    8. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. (PubMed id 11001877)1, 2, 9 Dale D.C.... Horwitz M. (Blood 2000)
    9. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. (PubMed id 10581030)1, 2, 9 Horwitz M.... Dale D.C. (Nat. Genet. 1999)
    10. Alpha-1-antitrypsin phenotypes and neutrophil elastase gene promoter polymorphisms in lung cancer. (PubMed id 20521180)1, 7 Topic A....Radojkovic D. (Pathol. Oncol. Res. 2011)

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

      Query String
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    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: 1991 HGNC: 3309 AceView: ELA2 Ensembl:ENSG00000197561 euGenes: HUgn1991
    ECgene: ELANE Kegg: 1991 H-InvDB: ELANE

    (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 ELANE Pharmacogenomics, SNPs, Pathways
    ELA2basehttp://bioinf.uta.fi/ELA2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ELA2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ela2/
    Wikipedia http://en.wikipedia.org/wiki/Elastase

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

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



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