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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:79722146-79724050 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    106 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2679229
 protein coding gene Chr10:79722081-79724050 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017466
 protein coding gene Chr10:80447427-80449324 (+)
A/J MGP_AJ_G0017444
 protein coding gene Chr10:77641431-77643333 (+)
AKR/J MGP_AKRJ_G0017405
 protein coding gene Chr10:79756650-79758602 (+)
BALB/cJ MGP_BALBcJ_G0017406
 protein coding gene Chr10:77867845-77869748 (+)
C3H/HeJ MGP_C3HHeJ_G0017229
 protein coding gene Chr10:79862032-79863939 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017860
 protein coding gene Chr10:83221471-83225828 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015548
 protein coding gene Chr10:73867727-73869600 (+)
CAST/EiJ MGP_CASTEiJ_G0016796
 protein coding gene Chr10:80047997-80049895 (+)
CBA/J MGP_CBAJ_G0017201
 protein coding gene Chr10:86450134-86452028 (+)
DBA/2J MGP_DBA2J_G0017307
 protein coding gene Chr10:76856534-76858431 (+)
FVB/NJ MGP_FVBNJ_G0017301
 protein coding gene Chr10:76033647-76035541 (+)
LP/J MGP_LPJ_G0017378
 protein coding gene Chr10:80923944-80925854 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017327
 protein coding gene Chr10:88422000-88423894 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017901
 protein coding gene Chr10:79742382-79744289 (+)
PWK/PhJ MGP_PWKPhJ_G0016577
 protein coding gene Chr10:76721485-76723421 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016366
 protein coding gene Chr10:78713153-78718261 (+)
WSB/EiJ MGP_WSBEiJ_G0016856
 protein coding gene Chr10:79764648-79766553 (+)



Homology
more
  • Human Ortholog
    ELANE, elastase, neutrophil expressed
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ELANE, elastase, neutrophil expressed
  • Synonyms
    ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
  • Links
    NCBI Gene ID: 1991
    neXtProt AC: NX_P08246
    UniProt: P08246

  • Chr Location
    19p13.3; chr19:851014-856247 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human ELANE associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 8 genetic backgrounds
    9 phenotypes from multigenic genotypes
    108 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.
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
less
  • All GO Annotations
    61
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    717
  • Tissues
    2
  • cDNA Data
    4
  • Literature Summary
    4
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 ZRU/MplStud  
polypeptide Q3UP87 UniProt | EBI | MGI Sequence Detail 265 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    Genomic 5
    cDNA 4

    Microarray probesets 3
References
more
  • Summaries
    All 160
    Developmental Gene Expression 4
    Gene Ontology 10
    Phenotypes 108
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:352018 Zhang H, et al., Ferritin-mediated neutrophil extracellular traps formation and cytokine storm via macrophage scavenger receptor in sepsis-associated lung injury. Cell Commun Signal. 2024 Feb 2;22(1):97
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory