ELANE
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_001972.2 Gene Symbol ELANE
Protein Name Elastase 2, neutrophil
Alternate Names GE, HLE, HNE, NE, PMN-E, ELA2
Gene Locus 19p13.3

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
86 00554 130130 1991 1991 1B0F
1H1B
1HNE
1PPF
1PPG
 3309 ENSG00000197561 P08246 ELANE

Disease name Characteristic / Associated features Category inheritance type
Cyclic neutropenia; Congenital neutropenia Cyclic neutropenia; Mucosal ulcers; Recurring fever and malaise; Occasional life-threatening infections Congenital defects of Phagocyte number, function or both Autosomal dominant
Cyclic neutropenia; Congenital neutropenia Agranulocytosis; Promyelocytic maturation arrest; Monocytosis; Eosinophilia; Thrombocytosis; Acute monocytic leukemia; Hypergammaglobulinemia; Activation of the unfolded protein response; increased myeloid cell apoptosis Congenital defects of Phagocyte number, function or both Autosomal dominant
- Upper respiratory infections;Otitis media;Skin infections;Pneumonia Congenital defects of Phagocyte number, function or both