Gene: ELANE

Alternate names for this Gene: ELA2|GE|HLE|HNE|NE|PMN-E|SCN1

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: elastase, neutrophil expressed

Type of Gene: protein-coding

rs137854445 in ELANE gene and Cyclic neutropenia PMID 14673143 2004 A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

PMID 14962902 2004 Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

PMID 11001877 2000 Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

PMID 10581030 1999 Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

PMID 23463630 2013 The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

PMID 25703294 2016 Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.

PMID 19036076 2009 Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

PMID 11675333 2001 Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

PMID 18611981 2008 Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

PMID 17391497 2007 Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.

PMID 25427142 2015 The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

PMID 24523240 2014 Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

PMID 20049848 2010 Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.

rs1057520110 in ELANE gene and Neutropenia, Severe Congenital, Autosomal Dominant 1 PMID 19415009 2009 Ela2 mutations and clinical manifestations in familial congenital neutropenia.

PMID 11675333 2001 Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

PMID 19036076 2009 Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

PMID 20803142 2011 Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

PMID 23463630 2013 The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

PMID 21425445 2011 Four novel ELANE mutations in patients with congenital neutropenia.

PMID 18946670 2009 A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.

PMID 20220065 2010 Digenic mutations in severe congenital neutropenia.

PMID 19927291 2010 Pegfilgrastim in children with severe congenital neutropenia.

PMID 11001877 2000 Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

PMID 12091371 2002 Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.

PMID 14962902 2004 Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

PMID 17436313 2007 Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

PMID 25703294 2016 Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.

PMID 10581030 1999 Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

PMID 18611981 2008 Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

PMID 25427142 2015 The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

PMID 17391497 2007 Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.

PMID 24523240 2014 Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

PMID 17053055 2007 Neutrophil elastase in cyclic and severe congenital neutropenia.

PMID 20049848 2010 Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.

rs10409474 in ELANE gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.