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Elane
Gene Detail
 Symbol
Name
ID
Elane
elastase, neutrophil expressed
MGI:2679229
Synonyms Ela2, F430011M15Rik, NE, neutrophil elastase
Feature Type protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr10:79886312-79888216 bp, + strand
From NCBI annotation of GRCm38

  1905 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20455  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

Protein SuperFamily: trypsin
Gene Tree: Elane

Human
homologs
Human Homolog ELANE, elastase, neutrophil expressed
NCBI Gene ID 1991
neXtProt AC  NX_P08246
Human Synonyms  ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
Human Chr (Location)  19p13.3; chr19:850989-856246 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human ELANE
Alleles
and
phenotypes
All alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a null allele show impaired neutrophil physiology, susceptibility to Gram (-) bacterial infection, reduced sensitivity to xenobiotics, and abnormal local Shwartzman responses. Homozygotes for a knock-in allele show susceptibility to fungal infection and resistance to endotoxic shock.
 
Gene Ontology
(GO)
classifications
All GO classifications: (39 annotations)
Process acute inflammatory response to antigenic stimulus, defense response to bacterium, ...
Component cell surface, cytoplasm, ...
Function catalytic activity, cytokine binding, ...
External Resources: FuncBase
Expression
cDNA source data(4)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(9) Genomic(5) cDNA(4)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000020125 (Evidence)
Entrez Gene50701 (Evidence)
UniGene262194
DFCITC1635819
DoTSDT.40174651
NIA Mouse Gene IndexU152699
EC3.4.21.37
Consensus CDS ProjectCCDS23994.1
International Mouse Knockout Project StatusElane
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 50701 NCBI Gene Model | MGI Sequence Detail 1905 C57BL/6J ±  kb
transcript NM_015779 RefSeq | MGI Sequence Detail 920 C57BL/6 
polypeptide Q3UP87 UniProt | EBI | MGI Sequence Detail 265 Not Applicable 

For the selected sequences
All sequences(16) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(11 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001254 Peptidase S1
InterPro IPR001314 Peptidase S1A, chymotrypsin-type
InterPro IPR018114 Peptidase S1, trypsin family, active site
InterPro IPR009003 Trypsin-like cysteine/serine peptidase domain
Protein Ontology PR:000007009 neutrophil elastase
Graphical View of Protein Domain Structure
References (Earliest) J:38059 Belaaouaj A, et al., Characterization of the mouse neutrophil elastase gene and localization to chromosome 10. Mamm Genome. 1997 Jan;8(1):5-8
(Latest) J:209292 Rossaint J, et al., Synchronized integrin engagement and chemokine activation is crucial in neutrophil extracellular trap-mediated sterile inflammation. Blood. 2014 Apr 17;123(16):2573-84
All references(91)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory