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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ELANE Gene

protein-coding GIFtS: 66
GCID: GC19P000852

elastase, neutrophil expressed

(Previous names: elastase 2, neutrophil )
(Previous symbol: ELA2)

Explore 181 diseases affiliated with
ELANE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Elastase, Neutrophil Expressed¹ ²		PMN-E²
ELA2¹ ² ³ ⁵		Elastase-2³
HLE¹ ² ³		Granulocyte-Derived Elastase²
HNE¹ ²		Leukocyte Elastase²
NE¹ ²		Medullasin³
Elastase 2, Neutrophil¹ ²		Neutrophil Elastase²
Bone Marrow Serine Protease² ³		Polymorphonuclear Elastase²
Human Leukocyte Elastase² ³		EC 3.4.21.37³
PMN Elastase² ³		Elastase-2³
SCN1² ⁵		Medullasin³
GE²		EC 3.4.21⁸

External Ids:	HGNC: 3309¹	Entrez Gene: 1991²	Ensembl: ENSG00000197561⁷	OMIM: 130130⁵	UniProtKB: P08246³

Export aliases for ELANE gene to outside databases

Previous GC identifers: GC19P000804 GC19P000621

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ELANE:

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six

elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within

specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following

the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases

by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein 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

clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter.

All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during

neutrophil differentiation. (provided by RefSeq, May 2009)

UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246

Function: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil

enzyme release and chemotaxis

Gene Wiki entry for ELANE (Neutrophil elastase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011255.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ELANE gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ELANE promoter sequence

Search SABiosciences Chromatin IP Primers for ELANE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ELANE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3

ELANE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELANE gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P000852: view genomic region (about GC identifiers)

Start:	851,014 bp from pter	End:	856,246 bp from pter
Size:	5,233 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246 (See protein sequence)

Recommended Name: Neutrophil elastase precursor

Size: 267 amino acids; 28518 Da

Subunit: Interacts with NOTCH2NL

Sequence caution: Sequence=CAA29300.1; Type=Erroneous initiation;

6/9 PDB 3D structures from and Proteopedia for ELANE (see all 9):

1B0F (3D)

1H1B (3D)

1HNE (3D)

1PPF (3D)

1PPG (3D)

2RG3 (3D)

Secondary accessions: P09649 Q6B0D9 Q6LDP5

Explore the universe of human proteins at neXtProt for ELANE: NX_P08246

2 DME Specific Peptides for ELANE (P08246)

GDSGSPL

VLQELNVTVVT

ELANE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001963.1

ENSEMBL proteins:

ENSP00000466090 ENSP00000263621

Reactome Protein details: P08246
Human Recombinant Protein Products:

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	Novus Biologicals ELANE Proteins Novus Biologicals ELANE Lysate
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	Uscn Proteins for ELANE

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005737	cytoplasm	--	--
GO:0009986	cell surface	IDA	12114510
GO:0030141	secretory granule	IDA	11907569

ELANE for ontologies About GeneDecksing

ELANE Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ELANE
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	Uscn Antibodies for ELANE
	ThermoFisher Antibodies for ELANE

Assay Products for ELANE:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for ELANE
	Enzo Life Sciences assays for ELANE
	Uscn ELISAs and CLIAs for ELANE

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ELANE for domains About GeneDecksing

4 InterPro domains/families:

IPR001314 Peptidase_S1A

IPR009003 Trypsin-like_Pept_dom

IPR001254 Peptidase_S1

IPR018114 Peptidase_S1_AS

Graphical View of Domain Structure for InterPro Entry P08246

ProtoNet protein and cluster: P08246

2 Blocks protein families:

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246

Similarity: Belongs to the peptidase S1 family. Elastase subfamily

Similarity: Contains 1 peptidase S1 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246

Function: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil

enzyme release and chemotaxis

Catalytic activity: Hydrolysis of proteins, including elastin. Preferential cleavage: Val- -Xaa > Ala- -Xaa

Enzyme Numbers (IUBMB): EC 3.4.21² EC 3.4.21.37¹

miRNA Products:		OriGene 3'-UTR Clone: ELANE Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ELANE
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ELANE
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ELANE (see all 7) OriGene shRNA RFP: ELANE OriGene siRNA: ELANE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ELANE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ELANE

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ELANE
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ELANE

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IPI	6980881
GO:0004175	endopeptidase activity	IDA	6980881
GO:0004252	serine-type endopeptidase activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0008201	heparin binding	IDA	11907569

ELANE for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ELANE:

Decreased homologous recombina

Animal Models:
Mouse knock-outs for ELANE: Elane^tm1Sds Elane/Prtn3^{Elane/tm1Deje}
6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Elane):

hematopoietic system	homeostasis/metabolism	immune system	mortality/aging	normal
tumorigenesis

ELANE for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Degradation of the extracellular matrix

	Degradation of the extracellular matrix	1.00			Activation of Matrix Metalloproteinases	0.40
	Degradation of collagen	0.79

Cell adhesion_Cell-matrix glycoconjugates

Cell adhesion_Cell-matrix glycoconjugates

1.00

Cell adhesion Cell-matrix glycoconjugates

0.97

Selected targets of C/EBPbeta

Selected targets of C/EBPbeta

1.00

Selected targets of C/EBPalpha

Selected targets of C/EBPalpha

1.00

C-MYB transcription factor network

C-MYB transcription factor network

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for ELANE

	Selected targets of C/EBPbeta
	Cell adhesion Cell-matrix glycoconjugates
	Selected targets of C/EBPalpha

1 GeneGo (Thomson Reuters) Pathway for ELANE

Cell adhesion Cell-matrix glycoconjugates

2 BioSystems Pathways for ELANE

	C-MYB transcription factor network
	amb2 Integrin signaling

5 Reactome Pathways for ELANE

	Activation of proMMP8
	Extracellular matrix organization
	Degradation of the extracellular matrix
	Degradation of collagen
	Activation of Matrix Metalloproteinases

1 Kegg Pathway (Kegg details for ELANE):

Systemic lupus erythematosus

ELANE for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ELANE

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/73 Interacting proteins for ELANE (P08246^{1, 2, 3} ENSP00000263621⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 73)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GZMB	P10144²^,³, ENSP00000216341⁴	MINT-6803398 I2D: score=1 STRING: ENSP00000216341
SERPINA1	P01009³, ENSP00000348068⁴	I2D: score=5 STRING: ENSP00000348068
LRP1	Q07954³, ENSP00000243077⁴	I2D: score=3 STRING: ENSP00000243077
SERPINF2	P08697³, ENSP00000321853⁴	I2D: score=3 STRING: ENSP00000321853
SERPING1	P05155³, ENSP00000278407⁴	I2D: score=3 STRING: ENSP00000278407

About this table

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001878	response to yeast	--	--
GO:0002438	acute inflammatory response to antigenic stimulus	--	--
GO:0006508	proteolysis	IDA	11907569
GO:0006874	cellular calcium ion homeostasis	NAS	15140022
GO:0006909	phagocytosis	--	--

ELANE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ELANE for compounds About GeneDecksing

EMD Millipore small molecules for ELANE:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for ELANE

Compounds for ELANE available from Tocris Bioscience About this table

Compound	Action	CAS #
Sivelestat sodium salt	Selective leukocyte elastase inhibitor	[150374-95-1]
SSR 69071	Potent, orally active human leukocyte elastase inhibitor	[344930-95-6]

5 DrugBank Compounds for ELANE About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Filgrastim	G-CSF (see all 4)	143011-72-7	target	other/unknown	12393522 14657210 15353486 17475913 17311988 16245075
Pegfilgrastim	G-CSF (see all 4)	208265-92-3	target	--	12958067 14657210 17475913 16245075 15353486
Alpha-1-proteinase inhibitor	Alpha 1-antitrypsin (see all 4)	9041-92-3	target	inhibitor	16773239 11752352 20521180
Mdl 101,146	--	149859-17-6	target	--	17139284 17016423
ONO-6818	--	208848-19-5	target	inhibitor	14530017 11752352

10/133 Novoseek chemical compound relationships for ELANE gene (see all 133) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sivelestat	89	64	17950695 (3), 16039215 (3), 16897233 (2), 16428865 (2) (see all 39)
serine	85.3	562	1669448 (3), 7847352 (3), 10101005 (3), 10231512 (3) (see all 99)
sivelestat sodium hydrate	82.6	26	16554988 (3), 12890901 (1), 16502863 (1), 10852782 (1) (see all 20)
fmlp	80.7	184	15294123 (4), 15229106 (4), 8997524 (4), 9695746 (3) (see all 99)
elastatinal	79.9	13	9122713 (1), 10722050 (1), 17251461 (1), 1540391 (1) (see all 11)
ulinastatin	78.9	91	11700404 (6), 8062321 (5), 8712383 (4), 8230902 (4) (see all 31)
mr 889	75.2	15	8309349 (6), 2310417 (4), 8836663 (2), 1482382 (1)
methoxysuccinyl-alanyl-alanyl-prolyl-valine chloromethyl ketone	75.2	4	7616444 (1), 2310097 (1), 12008933 (1)
desmosine	72	14	8075606 (2), 16484139 (1), 16769715 (1), 17238189 (1) (see all 11)
l 658758	71.4	1	8330930 (1)

Search CenterWatch for drugs/clinical trials and news about ELANE / ELNE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ELANE gene:

NM_001972.2

Unigene Cluster for ELANE:

Elastase, neutrophil expressed

Hs.99863 [show with all ESTs]

Unigene Representative Sequence: NM_001972

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000590230 ENST00000263621(uc002lqb.3)

miRNA Products:		OriGene 3'-UTR Clone: ELANE Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ELANE
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ELANE (see all 7) OriGene shRNA RFP: ELANE OriGene siRNA: ELANE
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ELANE (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ELANE OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ELANE (NM_001972)
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Additional cDNA sequence:

BC074816.2 BC074817.2 D00187.1 J03545.1 M27783.1 M34379.1 X05875.1

1 DOTS entry:

DT.309749

24/59 AceView cDNA sequences (see all 59):

D00187 CD613591 AJ714279 CD613608 BC074817 BM929508 NM_001972 BX114651

X05875 AJ712842 BC074816 M34379 CD613588 BU742825 BP428698 CD613598

CD613606 CD613603 BP429365 CD613590 CD613597 BV186543 CD613589 CD613593

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ELANE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCTGGGGCC

About this image

ELANE expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ELANE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ELANE

SOURCE GeneReport for Unigene cluster: Hs.99863

UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246

Tissue specificity: Bone marrow cells

SABiosciences Expression via Pathway-Focused PCR Arrays including ELANE:

HIV Host Response in human mouse rat

Tumor Metastasis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ELANE Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ELANE

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ELANE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ELANE gene from 2/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	AL954146.1⁶ CR558302.2⁶	--	31(a) 27(a)	possible ortholog possible ortholog	23(37542555-37552094) 11(3640652-3646662)
fruit fly (Drosophila melanogaster)	Insecta	CG30025⁶ thetaTry⁶ (see all 49)	thetaTrypsin (see all 49)	27(a) 27(a) (see all 49)	possible ortholog possible ortholog (see all 49)	2R(7241069-7241878) 2R(7229219-7230265)

ENSEMBL Gene Tree for ELANE (if available)
TreeFam Gene Tree for ELANE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ELANE gene

PRTN3² GZMH² GZMK² PRSS57² CTSG² CFD² CMA1² AZU1²

GZMM² GZMA² GZMB²

18/42 SIMAP similar genes for ELANE using alignment to 1 protein entry: ELNE_HUMAN(see all similar genes):

ELA2 PRTN3 AZU1 DF LPA CFD

CTSG GZMA GZMB GZMH GZMM PRSS3

KLK15 CMA1 CTRB1 CTRL GZMK KLK4

ELANE for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28931611^1,2	C	pathogenic	853019(+)	`CGCACT/CGCGTG`	2	/R /C	mis¹ ese³		1		NA	2
rs137854449^1,2	C	pathogenic	853338(+)	`TCGCCA/C/G/T TGCAG`	4	M L V	mis¹		0	--	--	--	--
rs137854445^1,2	C	pathogenic	856019(+)	`CGTCCA/C/GGGGAG`	3	Q P R	mis¹		0	--	--	--	--
rs10413889^1,2	C,	--	850299(+)	`GATACG/AGCGTC`	1	--	us2k¹		4		WA CSA NA	242
rs192103584^1,2	C,	--	850419(+)	`CAAAAA/GGGGAG`	1	--	us2k¹		0	--	--	--	--
rs17216550^1,2	C,F,	--	850486(+)	`TGAGCG/ACCTGC`	1	--	us2k¹		10		NS CSA WA NA	1054
rs3761007^1,2	C,F,H,	--	850574(-)	`GAGTCC/TTGACG`	1	--	us2k¹		22		EA NS NA	3996
rs3761006^1,2	C,F,	--	850600(-)	`GGACAC/TGCAGA`	1	--	us2k¹		10		NS NA EA	948
rs10409474^1,2	C,F,	--	850733(+)	`AACATC/GGTGGG`	1	--	us2k¹		8		NS NA WA EA	530
rs3761005^1,2	C,F,A,	--	850793(-)	`GGGAAT/AGGGAT`	1	--	us2k¹ tfbs³ trp³		10		NS NA WA CSA EA	532

HapMap Linkage Disequilibrium report for ELANE (851014 - 856246 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ELANE
1 CNV: 30054
Human Gene Mutation Database (HGMD): ELANE

Locus Specific Mutation Databases (LSDB): ELANE

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ELANE

DNA2.0 Custom Variant and Variant Library Synthesis for ELANE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ELANE for disorders           About GeneDecksing

OMIM gene information: 130130
OMIM disorders: 162800  202700
UniProtKB/Swiss-Prot: ELNE_HUMAN, P08246

Defects in ELANE are a cause of cyclic haematopoiesis (CH) [MIM:162800]; also known as cyclic neutropenia. CH

is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day

periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia,

affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also

cycle with the same frequency

Defects in ELANE are the cause of neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700].

SCN1 is a disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of

promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial

infections

20/181 diseases for ELANE (see all 181): About MalaCards

severe congenital neutropenia neutropenia neutropenia, severe congenital, autosomal dominant 1 alpha 1-antitrypsin deficiency

conjunctivitis ligneous cutis laxa exocrine pancreatic insufficiency arthus reaction

carotid artery dissection chronic venous leg ulcers rapidly progressive glomerulonephritis hemolytic-uremic syndrome

wegener's granulomatosis otitis externa adult respiratory distress syndrome aortic aneurysm

14 diseases from the University of Copenhagen DISEASES database for ELANE:

Cystic fibrosis Chronic obstructive pulmonary disease Alpha 1-antitrypsin deficiency Neutropenia

Adult respiratory distress syndrome Vascular disease Bronchitis Bronchiectasis

Periodontal disease Alzheimer's disease Pneumonia Hepatocellular carcinoma

Asthma Pancreatitis

10/97 Novoseek disease relationships for ELANE gene (see all 97) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neutropenia, severe congenital	86.7	76	18043239 (4), 12468929 (2), 17053055 (2), 17436313 (2) (see all 40)
pulmonary emphysema	78.6	52	8075606 (3), 2368980 (2), 9216188 (2), 1333306 (2) (see all 32)
neutropenia cyclic	76.4	59	11001877 (3), 12897784 (3), 11572070 (2), 18043239 (2) (see all 22)
cystic fibrosis	74.9	148	16627747 (5), 8693445 (4), 9476859 (3), 7638807 (2) (see all 95)
inflammation	74.5	271	7952645 (4), 10459586 (4), 10853853 (3), 10422648 (3) (see all 99)
bronchoalveolar lavage fluid	72.4	75	1489852 (4), 9543280 (3), 7712280 (3), 1919096 (2) (see all 53)
alpha 1-antitrypsin deficiency	68.2	2	2117160 (1), 11153169 (1)
lung diseases	68.2	77	12800053 (3), 11834675 (3), 8256917 (3), 2187705 (2) (see all 53)
postperfusion syndrome	64.1	7	11806432 (2)
pulmonary disease chronic obstructive	63.1	39	8836663 (2), 2024812 (2), 1579727 (1), 11249578 (1) (see all 29)

GeneTests: ELANE

ELANE-Related Neutropenia

Human Genome Epidemiology (HuGE) Navigator: ELANE (1 document)

Export disorders for ELANE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ELANE gene, integrated from 9 sources (see all 2470):
(articles sorted by number of sources associating them with ELANE)

Utopia: connect your pdf to the dynamic
world of online information

Structure of the human neutrophil elastase gene. (PubMed id 2902087)^{1, 2, 3} Takahashi H.... Crystal R.G. (1988)
Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells. (PubMed id 2322278)^{1, 2, 9} Okano K.... Naruto M. (1990)
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. (PubMed id 11675333)^{1, 2, 9} Ancliff P.J.... Linch D.C. (2001)
Human leukocyte elastase and cathepsin G are specific inhibitors of C5a-dependent neutrophil enzyme release and chemotaxis. (PubMed id 15140022)^{1, 2, 9} Tralau T.... Wiedow O. (2004)
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. (PubMed id 17436313)^{1, 2, 9} Salipante S.J.... Horwitz M.S. (2007)
A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. (PubMed id 14673143)^{1, 2, 9} Duan Z.... Horwitz M. (2004)
Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis. (PubMed id 12393522)^{1, 7, 9} El Ouriaghli F....Barrett A.J. (2003)
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. (PubMed id 11001877)^{1, 2, 9} Dale D.C.... Horwitz M. (2000)
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. (PubMed id 10581030)^{1, 2, 9} Horwitz M.... Dale D.C. (1999)
Alpha-1-antitrypsin Phenotypes and Neutrophil Elastas e Gene Promoter Polymorphisms in Lung Cancer. (PubMed id 20521180)^{1, 7} Topic A....Radojkovic D. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1991	HGNC: 3309	AceView: ELA2	Ensembl:ENSG00000197561	euGenes: HUgn1991
ECgene: ELANE	Kegg: 1991	H-InvDB: ELANE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ELANE	Pharmacogenomics, SNPs, Pathways
ELA2base	http://bioinf.uta.fi/ELA2base/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ELA2
NIEHS-SNPs	http://egp.gs.washington.edu/data/ela2/
Wikipedia	http://en.wikipedia.org/wiki/Elastase

Intellectual Property for ELANE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ELANE gene:
Search GeneIP for patents involving ELANE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

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ELANE Gene

elastase, neutrophil expressed

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ELANE (Gene Symbol)
Elastase, Neutrophil Expressed
ELA2
HLE
HNE
NE
Elastase 2, Neutrophil
Bone Marrow Serine Protease
Human Leukocyte Elastase
PMN Elastase
SCN1
GE
PMN-E
Elastase-2
Granulocyte-Derived Elastase
Leukocyte Elastase
Medullasin
Neutrophil Elastase
Polymorphonuclear Elastase
EC 3.4.21.37
Elastase-2
Medullasin
EC 3.4.21

Steatorrhea
Leg Ulcer
Gingivitis
Bronchiectasis
Chronic sinusitis
Pulmonary Emphysema
sepsis
Pseudomonas Infections
Cystic Fibrosis
Cutis Laxa
ELANE-Related Neutropenia
Colitis Ulcerative
AIRWAYS DISEASE
Arthus Reaction
Solar elastosis
CONJUNCTIVITIS, LIGNEOUS
Capillary Leak Syndrome
Atherosclerosis
Respiratory Distress Syndrome
Metaplasia
Chronic prostatitis
Edema
Asthma
RUPTURED CEREBRAL ANEURYSM
ALVEOLITIS
Aspergillosis
cell damage
Pancreatic necrosis
Hypertension Pulmonary
Aneurysm
Pancreatitis Alcoholic
Bronchopulmonary Dysplasia
GINGIVAL BLEEDING
Periodontal Diseases
Pancreatitis
CHOLANGITIS PRIMARY SCLEROSING
Bronchoalveolar Lavage Fluid
Nasal Polyps
acute pancreatitis
NEUTROPENIA, SEVERE CONGENITAL
NETHERTON SYNDROME
PANCREAS EXOCRINE
Inflammation
Neutropenia
Psoriasis
Pulmonary Disease Chronic Obstructive
Rheumatoid Arthritis
Pneumonia
Kawasaki Disease
Necrosis
Disseminated Intravascular Coagulation
FIBROSIS IDIOPATHIC PULMONARY
Shock Septic
Pustular psoriasis
Myeloid Leukemia
Chronic ulcer
Emphysema panacinar
Pulmonary Fibrosis
Pancreatic Insufficiency
Vasculitis
alpha 1-Antitrypsin Deficiency
atherosclerotic plaque
Emphysema centrilobular
Bronchial Diseases
Systemic Inflammatory Response Syndrome
Pustulosis Palmaris et Plantaris
Bacterial Infections
Intracranial Aneurysm
Myeloid Leukemia Chronic
Bronchitis Chronic
POSTPERFUSION SYNDROME
chronic pancreatitis
Pulmonary hemorrhage
NEUTROPENIA CYCLIC
Inflammatory Bowel Diseases
Multiple Organ Failure
Aortic Aneurysm Abdominal
CYSTIC FIBROSIS LUNG
Response Acute Phase
Respiratory disease
elastic skin
Chronic periodontitis
Bleeding
Exocrine pancreatic insufficiency
Lung diseases
Acute respiratory distress
Kostmanns syndrome
Leukemia Promyelocytic Acute
Blood Loss Postoperative
Chorioamnionitis
Wegeners Granulomatosis
Vascular Diseases
Respiratory Distress Syndrome Adult
Pancreatic Diseases
Glomerulonephritis
Saccular Aneurysm
genetic disorder
Cerebral Aneurysm

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ELANE Gene

elastase, neutrophil expressed

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