ELANE

elastase, neutrophil expressed

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. [provided by RefSeq, Jan 2016]

Known Variants416 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7260160	19:851,457	A/G	—	likely benign
rs1373463131	19:851,482	T/C	—	likely benign
rs2007647	19:851,976	G/A	—	benign
rs17222989	19:852,033	T/C	—	benign
rs17216593	19:852,044	C/T	—	benign
rs740021	19:852,104	C/A	—	benign
rs556325692	19:852,167	C/T	—	likely benign
rs1599289783	19:852,196	C/T	—	benign
rs351106	19:852,205	C/T	—	benign
rs17216607	19:852,234	C/T	—	benign
rs370728101	19:852,238	C/G	—	benign
rs200601380	19:852,285	G/C	—	benign
rs758179184	19:852,287	G/A	—	benign
rs17216614	19:852,288	C/A	—	benign
rs748507982	19:852,318	C/T	—	benign
rs1250772095	19:852,324	C/T	—	likely benign
rs2145142832	19:852,329	A/G	—	pathogenic
rs2035606369	19:852,330	T/C	—	pathogenic
rs1199528225	19:852,337	C/T	—	likely benign
rs773460580	19:852,338	G/A	—	uncertain significance
rs942026381	19:852,341	C/T	—	uncertain significance
rs1050778419	19:852,342	G/A	—	uncertain significance
rs182347433	19:852,344	C/A	—	likely benign
rs771000673	19:852,347	C/T	—	conflicting classifications of pathogenicity
rs200666143	19:852,349	C/T	—	likely benign
rs759486889	19:852,350	G/A	—	conflicting classifications of pathogenicity
rs201961347	19:852,351	C/T	—	conflicting classifications of pathogenicity
rs199901033	19:852,352	G/C	—	likely benign
rs2035607298	19:852,353	T/C	—	uncertain significance
rs751186012	19:852,364	C/A	—	likely benign
rs756726256	19:852,366	C/G	—	uncertain significance
rs139637472	19:852,367	C/G	—	likely benign
rs1470888380	19:852,369	G/A	—	uncertain significance
rs1210157302	19:852,373	C/G	—	likely benign
rs1289067999	19:852,379	G/T	—	likely benign
rs797045007	19:852,380	G/C	missense variant	uncertain significance
rs755546229	19:852,388	G/A	—	benign
rs2512163754	19:852,389	C/T	—	likely benign
rs779360541	19:852,391	G/T	—	likely benign
rs1477643766	19:852,392	G/C	—	uncertain significance
rs748560924	19:852,394	G/A	—	likely benign
rs1599290074	19:852,396	G/T	—	uncertain significance
rs2035608170	19:852,402	T/C	—	likely benign
rs1370369907	19:852,415	C/T	—	likely benign
rs570466264	19:852,594	A/G	—	benign
rs2035613508	19:852,747	G/A	—	benign
rs775299038	19:852,770	G/A	—	benign
rs17223017	19:852,792	T/C	—	benign
rs17216621	19:852,797	G/A	—	benign
rs1212646432	19:852,812	C/T	—	benign
rs2145143776	19:852,815	T/A	—	benign
rs1443198519	19:852,856	C/T	—	likely benign
rs199933756	19:852,857	G/A	—	likely benign
rs367875841	19:852,861	C/A	—	benign
rs1192722559	19:852,862	C/T	—	likely benign
rs371409487	19:852,863	G/A	—	conflicting classifications of pathogenicity
rs1380161253	19:852,864	G/T	—	uncertain significance
rs201081403	19:852,871	C/A	—	likely benign
rs2145143878	19:852,876	G/A	—	uncertain significance
rs367677280	19:852,878	A/C	—	conflicting classifications of pathogenicity
rs2512164382	19:852,881	G/A	—	uncertain significance
rs1396230082	19:852,882	C/A	—	uncertain significance
rs878855314	19:852,885	T/C	—	uncertain significance
rs2512164400	19:852,888	C/A	—	uncertain significance
rs2145143896	19:852,889	C/T	—	likely benign
rs2035615488	19:852,891	C/T	—	uncertain significance
rs2035615523	19:852,893	G/A	—	uncertain significance
rs2035615592	19:852,898	T/G	—	likely pathogenic
rs2145143909	19:852,899	G/A	—	uncertain significance
rs894935356	19:852,901	G/T	—	conflicting classifications of pathogenicity
rs565787338	19:852,904	G/A	—	likely benign
rs17216628	19:852,907	C/T	—	likely benign
rs201163886	19:852,908	C/T	—	likely benign
rs2512164450	19:852,909	G/T	—	uncertain significance
rs1241470202	19:852,910	G/T	—	likely benign
rs375350474	19:852,912	G/A	—	conflicting classifications of pathogenicity
rs1238175738	19:852,915	C/G	—	uncertain significance
rs886109432	19:852,916	G/A	—	likely benign
rs1378830851	19:852,920	C/A	—	uncertain significance
rs986515965	19:852,921	C/T	—	uncertain significance
rs200245073	19:852,922	C/T	—	likely benign
rs774270504	19:852,925	C/A	—	uncertain significance
rs1004780968	19:852,926	G/A	—	uncertain significance
rs1555709342	19:852,927	C/T	—	uncertain significance
rs1331769113	19:852,928	G/A	—	likely benign
rs587780933	19:852,934	C/T	—	likely benign
rs2512164486	19:852,935	T/C	—	likely pathogenic
rs2512164490	19:852,937	C/G	—	pathogenic
rs1599290793	19:852,941	G/C	—	likely pathogenic
rs2035616857	19:852,944	T/C	—	pathogenic
rs878855320	19:852,945	C/A	missense variant	pathogenic
rs2145144082	19:852,946	C/T	—	likely benign
rs878855319	19:852,948	T/C	missense variant	pathogenic
rs2145144098	19:852,954	T/C	—	uncertain significance
rs760207952	19:852,958	C/A	—	likely benign
rs1320267189	19:852,959	G/A	—	uncertain significance
rs1131691882	19:852,965	C/T	—	likely pathogenic
rs2512164539	19:852,966	A/T	—	likely pathogenic
rs2145144118	19:852,967	C/G	—	likely pathogenic
rs2512164548	19:852,971	T/C	—	likely pathogenic

Showing 100 of 416 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.