ELANE (elastase, neutrophil expressed)

2009-05-01  

Identity

HGNC
ELANE
LOCATION
19p13.3
LOCUSID
1991
ALIAS
ELA2,GE,HLE,HNE,NE,PMN-E,SCN1

Other Information

Locus ID:

NCBI: 1991
MIM: 130130
HGNC: 3309
Ensembl: ENSG00000197561

Variants:

dbSNP: 1991
ClinVar: 1991
TCGA: ENSG00000197561
COSMIC: ELANE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197561ENST00000263621P08246
ENSG00000197561ENST00000590230P08246

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Activation of Matrix MetalloproteinasesREACTOMER-HSA-1592389
Collagen degradationREACTOMER-HSA-1442490
Antimicrobial peptidesREACTOMER-HSA-6803157
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
209748162010Neutrophil elastase and myeloperoxidase regulate the formation of neutrophil extracellular traps.448
127781732003Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.107
196202982009Human neutrophils kill Streptococcus pneumoniae via serine proteases.68
221748302011Neutrophil elastase enhances sputum solubilization in cystic fibrosis patients receiving DNase therapy.66
161481492005Neutrophil elastase induces MUC5AC mucin production in human airway epithelial cells via a cascade involving protein kinase C, reactive oxygen species, and TNF-alpha-converting enzyme.62
165519672006Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.61
177858372007Neutrophils activate macrophages for intracellular killing of Leishmania major through recruitment of TLR4 by neutrophil elastase.58
177618332007Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.57
127823022003Neutrophil elastase up-regulates interleukin-8 via toll-like receptor 4.56
127710092003Neutrophil elastase in human atherosclerotic plaques: production by macrophages.52

Citation

Dessen P

ELANE (elastase, neutrophil expressed)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/413/elane