ELANE Chromosome 19
Elastase, neutrophil expressed
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What This Gene Does
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Granule associated serine proteases of immune defence|Complement system regulators and receptors|Elastases"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000197561
Associated Conditions (10)
Cyclical neutropenia
Neutropenia
severe congenital
1
autosomal dominant
Inborn genetic diseases
Autoinflammatory syndrome
ELANE-related disorder
Decreased total neutrophil count
X-linked severe congenital neutropenia
Key Variants
RS1085307624
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
RS112990855
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 1
Health Risk
RS1196145112
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
RS1258334813
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
RS1303279241
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 1
Health Risk
RS1339843779
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Inborn genetic diseases, Autoinflammatory syndrome
Health Risk
RS137854446
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
RS137854450
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 1
Health Risk
RS140880838
Conflicting classifications of pathogenicity
Neutropenia, severe congenital, 1
Health Risk
RS142441575
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
RS143579306
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
RS1468631555
Conflicting classifications of pathogenicity
Cyclical neutropenia, Neutropenia, severe congenital
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145145135 | Health Risk | Pathogenic | Neutropenia, severe congenital, 1 |
| RS2145148879 | Health Risk | Pathogenic | — |
| RS2145148969 | Health Risk | Pathogenic | Neutropenia, severe congenital, 1 |
| RS2145149748 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS2145149815 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS2512164490 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS2512164614 | Health Risk | Pathogenic | Neutropenia, severe congenital, 1 |
| RS2512168552 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS2512169227 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS28931611 | Health Risk | Pathogenic | Neutropenia, severe congenital, 1 |
| RS57246956 | Health Risk | Pathogenic | Neutropenia, severe congenital, 1 |
| RS745455816 | Health Risk | Pathogenic | ELANE-related disorder, Cyclical neutropenia, Neutropenia |
| RS797045009 | Health Risk | Pathogenic | Neutropenia, severe congenital, 1 |
| RS878855319 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS878855320 | Health Risk | Pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS879253882 | Health Risk | Pathogenic | Cyclical neutropenia, Decreased total neutrophil count, Neutropenia |
| RS879255272 | Health Risk | Pathogenic | — |
| RS1057520110 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1064793108 | Health Risk | Pathogenic/Likely pathogenic | Neutropenia, severe congenital, 1 |
| RS137854445 | Health Risk | Pathogenic/Likely pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS137854447 | Health Risk | Pathogenic/Likely pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS2035606369 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2035677025 | Health Risk | Pathogenic/Likely pathogenic | Neutropenia, severe congenital, 1 |
| RS762470485 | Health Risk | Pathogenic/Likely pathogenic | Cyclical neutropenia, Neutropenia, severe congenital |
| RS878855315 | Health Risk | Pathogenic/Likely pathogenic | Neutropenia, severe congenital, 1 |