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Elane Gene Detail
Summary
  • Symbol
    Elane
  • Name
    elastase, neutrophil expressed
  • Synonyms
    Ela2, F430011M15Rik, NE, neutrophil elastase
  • Feature Type
    protein coding gene
  • IDs
    MGI:2679229
    NCBI Gene: 50701
  • Gene Overview
    MyGene.info: ELANE
Location & Maps
more
  • Sequence Map
    Chr10:79886312-79888216 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1905 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    ELANE, elastase, neutrophil expressed
  • Vertebrate Orthologs
    6
  • Human Ortholog
    ELANE, elastase, neutrophil expressed
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
  • Links
    NCBI Gene ID: 1991
    neXtProt AC: NX_P08246

  • Chr Location
    19p13.3; chr19:850997-856250 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ELANE associations

Human Disease Mouse Models
       Cyclic Neutropenia   OMIM: 162800
Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1   OMIM: 202700
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 4 alleles in 7 genetic backgrounds
    9 phenotypes from multigenic genotypes
    69 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Elane
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    10 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000007009 neutrophil elastase
  • EC
  • InterPro Domains
    IPR001314 Peptidase S1A, chymotrypsin family
    IPR009003 Peptidase S1, PA clan
    IPR001254 Serine proteases, trypsin domain
    IPR018114 Serine proteases, trypsin family, histidine active site
    IPR033116 Serine proteases, trypsin family, serine active site
Molecular
Reagents
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  • All nucleic 9
    Genomic 5
    cDNA 4

    Microarray probesets 3
References
more
  • Summaries
    All 98
    Gene Ontology 9
    Phenotypes 69
  • 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:229115 Colom B, et al., Leukotriene B4-Neutrophil Elastase Axis Drives Neutrophil Reverse Transendothelial Cell Migration In Vivo. Immunity. 2015 Jun 16;42(6):1075-86

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
06/22/2016
MGI 6.04
The Jackson Laboratory