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; chr19:852291-856246 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ELANE

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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: (32 annotations)

Process	acute inflammatory response to antigenic stimulus, defense response to fungus, ...
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(4) cDNA(4)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000020125 (Evidence)
Entrez Gene	50701 (Evidence)
UniGene	262194
DFCI	TC1635819
DoTS	DT.40174651
NIA Mouse Gene Index	U152699
EC	3.4.21.37
Consensus CDS Project	CCDS23994.1
International Mouse Knockout Project Status	Elane

Sequences

Length	Strain/Species
genomic	50701	NCBI Gene Model | MGI Sequence Detail	1905	C57BL/6J
transcript	NM_015779	RefSeq | MGI Sequence Detail	920	C57BL/6
polypeptide	Q3UP87	UniProt | EBI | MGI Sequence Detail	265	Not Applicable

All sequences(16) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(11 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009003	Peptidase cysteine/serine, trypsin-like
InterPro	IPR001314	Peptidase S1A, chymotrypsin-type
InterPro	IPR001254	Peptidase S1/S6, chymotrypsin/Hap
InterPro	IPR018114	Peptidase S1/S6, chymotrypsin/Hap, active site
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:192787 Talukdar S, et al., Neutrophils mediate insulin resistance in mice fed a high-fat diet through secreted elastase. Nat Med. 2012 Sep;18(9):1407-12
All references(87)