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

ELANE Gene

protein-coding   GIFtS: 65
GCID: GC19P000852

Elastase, Neutrophil Expressed

(Previous names: elastase 2, neutrophil)
(Previous symbol: ELA2)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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 GC19P000621


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

Entrez Gene summary for 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 neutropenia, and pulmonary emphysema, and among its related super-pathways are Degradation of the extracellular matrix and Cell adhesion Cell-matrix glycoconjugates. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ELANE gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC19P000852:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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;
6/9 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 

2 DME Specific Peptides for ELANE (P08246)
 GDSGSPL  VLQELNVTVVT 

ELANE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

ELANE Protein Expression
REFSEQ proteins: NP_001963.1  
ENSEMBL proteins: 
 ENSP00000466090   ENSP00000263621  
Reactome Protein details: P08246
Human Recombinant Protein Products for ELANE: 
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Novus Biologicals ELANE Proteins
Novus Biologicals ELANE Lysate
Sino Biological Recombinant Protein for ELANE
Sino Biological Cell Lysate for ELANE 
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

ELANE for ontologies           About GeneDecksing



ELANE Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of ELANE
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OriGene Custom Antibody Services for ELANE
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Abcam antibodies for ELANE
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ThermoFisher Antibodies for ELANE
LSBio Antibodies in human, mouse, rat for ELANE 

Assay Products for ELANE: 
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OriGene Custom Assay Services for ELANE
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for ELANE
Enzo Life Sciences assays for ELANE
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)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002020protease binding IPI6980881
GO:0003824catalytic activity ----
GO:0004175endopeptidase activity IDA12887060
GO:0004252serine-type endopeptidase activity IEA--
GO:0005515protein binding IPI12114510
     
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 - Custom generated mouse model solutions for ELANE 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for ELANE
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ELANE

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for ELANE
Sirion Biotech Customized adenovirus for overexpression of ELANE

Clone
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OriGene clones in human, mouse for ELANE (see all 7)
OriGene ORF clones in mouse, rat for ELANE
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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
Sirion Biotech Customized lentivirus for stable overexpression of ELANE 
                     Customized lentivirus expression plasmids for stable overexpression of ELANE 

Cell Line
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Search LifeMap BioReagents cell lines for ELANE
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELANE


(Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

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

SuperPathContained pathways About
1Degradation of the extracellular matrix
Degradation of the extracellular matrix0.79
Activation of Matrix Metalloproteinases0.40
Degradation of collagen0.79
2Cell adhesion Cell-matrix glycoconjugates
Cell adhesion Cell-matrix glycoconjugates0.97
3Collagen biosynthesis and modifying enzymes
Extracellular matrix organization0.39
4Alcoholism
Systemic lupus erythematosus0.34
5amb2 Integrin signaling
amb2 Integrin signaling

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

3 EMD Millipore Pathways for ELANE
    Selected targets of C/EBPbeta
Cell adhesion Cell-matrix glycoconjugates
Selected targets of C/EBPalpha


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

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


4        Reactome Pathways for ELANE
    Extracellular matrix organization
Degradation of the extracellular matrix
Degradation of collagen
Activation of Matrix Metalloproteinases


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


ELANE for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ELANE

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

5/73 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): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001878response to yeast IEA--
GO:0002438acute inflammatory response to antigenic stimulus IEA--
GO:0006508proteolysis IDA11907569
GO:0006874cellular calcium ion homeostasis NAS15140022
GO:0006909phagocytosis IEA--

ELANE for ontologies           About GeneDecksing



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

ELANE for compounds           About GeneDecksing

EMD Millipore small molecules for ELANE:
Small Molecule - inhibitor
Enzo Life Sciences drugs & compounds for ELANE

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

10/133 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)

Search CenterWatch for drugs/clinical trials and news about ELANE / ELNE

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Inhib. RNA
Products:
     
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OriGene RNAi products in human, mouse, rat for ELANE
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Clone
Products:
     
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: ELANE (NM_001972)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ELANE
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELANE
Sirion Biotech Customized lentivirus for stable overexpression of ELANE 
                     Customized lentivirus expression plasmids for stable overexpression of ELANE 
Primer
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OriGene qPCR primer pairs and template standards for ELANE
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ELANE
  QIAGEN 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 

24/59 AceView cDNA sequences (see all 59):

CD613588 BU742825 BP428698 BC074817 AJ712842 BM929508 NM_001972 X05875 
BX114651 CD613591 D00187 CD613598 AJ714279 M34379 BC074816 CD613608 
CD613603 CD613606 CD613590 CD613592 BP429365 CD613589 J03545 CD613604 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ELANE expression in normal human tissues (normalized intensities)      ELANE embryonic expression: see
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 
 5/7 selected tissues (see all 7) fully expand
 
 Blood (Hematopoietic System)    fully expand to see all 10 entries
         Bone marrow-derived hematopoietic stem cells
         Bone Marrow CD105+ Cells   
         bone marrow mononuclear cells   
 
 Bone (Muscoskeletal System)    fully expand to see all 3 entries
         Bone Marrow
         bone marrow   
 
 Smooth Muscle (Muscoskeletal System)
         Human Bladder Smooth Muscle Cells (HBdSMC)   
 
 Liver (Hepatobiliary System)
         Fetal Liver CD34+ Cells   
 
 Lower Urinary Tract (Muscoskeletal System)
         Human Bladder Smooth Muscle Cells (HBdSMC)   

See ELANE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ELANE

SOURCE GeneReport for Unigene cluster: Hs.99863

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

    SABiosciences Expression via Pathway-Focused 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
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ELANE
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ELANE
QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ELANE gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Elane1 , 5 elastase, neutrophil expressed1, 5 72.74(n)1
73.64(a)1
  10 (39.72 cM)5
507011  NM_015779.21  NP_056594.21 
 798863125 
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.36
si:dkey-78l4.46
(see all 25)
si:dkey-78l4.4
(see all 25)
32(a)
31(a)
(see all 25)
possible ortholog
possible ortholog
(see all 25)
22(19493980-19501835)
22(19733409-19736079)
fruit fly
(Drosophila melanogaster)
Insecta CG129516
CG328086
(see all 3)
--
27(a)
27(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
3R(5154998-5156047)
X(1362763-1363679)


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)
About This Section
Paralogs for ELANE gene
GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  CFD2  CMA12  AZU12  
GZMM2  GZMA2  GZMB2  
18/41 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    GZMH    GZMM    PRSS3
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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/289 SNPs in ELANE are shown (see all 289)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0095384
Cyclic haematopoiesis (CH)4--see VAR_0095382 G V mis40--------
VAR_0645134
Neutropenia severe congenital autosomal dominant 1 (SCN1)4--see VAR_0645132 A T mis40--------
VAR_0095404
Cyclic haematopoiesis (CH)4--see VAR_0095402 R Q mis40--------
VAR_0095394
Cyclic haematopoiesis (CH)4--see VAR_0095392 V F mis40--------
VAR_0645124
Neutropenia severe congenital autosomal dominant 1 (SCN1)4--see VAR_0645122 A V mis40--------
rs289316111,2,4
Cpathogenic1783125(+) CGCACC/TGCGTG 2 R C mis1 ese30--------
rs1378544491,2
Cpathogenic1783444(+) TCGCCA/G/TTGCAG 3 M V L mis10--------
rs1378544451,2
Cpathogenic1786125(+) CGTCCA/C/GGGGAG 2 Q R mis10--------
VAR_0386244
----see VAR_0386242 G V mis40--------
VAR_0386174
----see VAR_0386172 V M mis40--------

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

Structural Variations
     Database of Genomic Variants (DGV) 10/21 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
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing ELANE
DNA2.0 Custom Variant and Variant Library Synthesis for ELANE

(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.)
About This Section
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 autosomal dominant 1 (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

  • 20/166 diseases for ELANE (see all 166):    About MalaCards
    neutropenia    pulmonary emphysema    cerebral aneurysms    elane-related neutropenia
    cyclic hematopoiesis    bronchial disease    neutropenia, severe congenital, autosomal dominant 1    aspiration pneumonia
    otitis externa    pustulosis palmaris et plantaris    conjunctivitis ligneous    alpha 1-antitrypsin deficiency
    rapidly progressive glomerulonephritis    bronchopneumonia    acquired cutis laxa    arthus reaction
    acute febrile neutrophilic dermatosis    capillary leak syndrome    marshall syndrome    netherton syndrome

    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


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/97 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)
    About This Section

    PubMed articles for ELANE gene, integrated from 9 sources (see all 2475):
    (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. (1988)
    2. Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells. (PubMed id 2322278)1, 2, 9 Okano K.... Naruto M. (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. (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. (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. (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. (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. (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. (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. (1999)
    10. Alpha-1-antitrypsin Phenotypes and Neutrophil Elastas e Gene Promoter Polymorphisms in Lung Cancer. (PubMed id 20521180)1, 7 Topic A....Radojkovic D. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1991 HGNC: 3309 AceView: ELA2 Ensembl:ENSG00000197561 euGenes: HUgn1991
    ECgene: ELANE Kegg: 1991 H-InvDB: ELANE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ELANE Pharmacogenomics, SNPs, Pathways
    ELA2basehttp://bioinf.uta.fi/ELA2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ELA2
    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.)
    About This Section
    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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