ELANE Gene (Protein Coding)

Elastase, Neutrophil Expressed

GC19P000854
GIFtS:
47
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 gra... See more...

Aliases for ELANE Gene

Aliases for ELANE Gene

  • Elastase, Neutrophil Expressed 2 3 5
  • Neutrophil Elastase 2 3 4
  • Medullasin 2 3 4
  • HLE 2 3 4
  • Bone Marrow Serine Protease 3 4
  • Elastase 2, Neutrophil 2 3
  • Leukocyte Elastase 2 3
  • PMN Elastase 3 4
  • Elastase-2 3 4
  • ELA2 3 4
  • HNE 2 3
  • NE 2 3
  • Granulocyte-Derived Elastase 3
  • Polymorphonuclear Elastase 3
  • Human Leukocyte Elastase 4
  • EC 3.4.21.37 4
  • EC 3.4.21 50
  • PMN-E 3
  • ELANE 5
  • SCN1 3
  • GE 3

External Ids for ELANE Gene

Previous HGNC Symbols for ELANE Gene

  • ELA2

Previous GeneCards Identifiers for ELANE Gene

  • GC19P000804
  • GC19P000852
  • GC19P000621

Summaries for ELANE Gene

Entrez Gene Summary for ELANE Gene

  • 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]

GeneCards Summary for ELANE Gene

ELANE (Elastase, Neutrophil Expressed) is a Protein Coding gene. Diseases associated with ELANE include Cyclic Neutropenia and Neutropenia, Severe Congenital, 1, Autosomal Dominant. Among its related pathways are Degradation of the extracellular matrix and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PRTN3.

UniProtKB/Swiss-Prot Summary for ELANE Gene

  • Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).

Gene Wiki entry for ELANE Gene

Additional gene information for ELANE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELANE Gene

Genomics for ELANE Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ELANE Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J000850 Promoter/Enhancer 1.1 Ensembl ENCODE 256.5 -0.2 -181 1.4 IKZF1 ZNF600 NFIC ZIC2 CEBPB ZNF341 MAX SP2 RXRA TBP ELANE LT222231 PRTN3
GH19J000852 Promoter 0.9 EPDnew Ensembl 250.7 +1.3 1303 0.2 SPI1 POLR2A ZFP69B ZNF692 ELANE CFD
GH19J000848 Enhancer 0.5 Ensembl 250.7 -1.8 -1796 0.8 PRDM10 POLR2A L3MBTL2 ZNF24 BCOR ZNF121 ZNF184 SMARCA5 ELANE LT222231 PRTN3
GH19J000851 Enhancer 0.4 ENCODE 250.7 +0.6 641 0.1 ZNF341 HDAC2 BCOR ELANE CFD
GH19J000747 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.3 -99.1 -99082 9.4 SP1 IKZF1 ZMYM3 BRCA1 ZIC2 CEBPB MBD2 MAX ZBTB7B ZNF217 MISP PRTN3 ELANE CFD FSTL3 PLPP2 TPGS1 RF00017-2443 lnc-PALM-1 PALM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELANE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELANE

Top Transcription factor binding sites by QIAGEN in the ELANE gene promoter:
  • AML1a

Genomic Locations for ELANE Gene

Latest Assembly
chr19:850,997-856,250
(GRCh38/hg38)
Size:
5,254 bases
Orientation:
Plus strand

Previous Assembly
chr19:852,303-856,243
(GRCh37/hg19 by Entrez Gene)
Size:
3,941 bases
Orientation:
Plus strand

chr19:851,014-856,242
(GRCh37/hg19 by Ensembl)
Size:
5,229 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr19(ALT_REF_LOCI_1):31,190-35,129 (+)

Genomic View for ELANE Gene

Genes around ELANE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELANE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELANE Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ELANE Gene

Proteins for ELANE Gene

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  • Protein details for ELANE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08246-ELNE_HUMAN
    Recommended name:
    Neutrophil elastase
    Protein Accession:
    P08246
    Secondary Accessions:
    • P09649
    • Q6B0D9
    • Q6LDP5

    Protein attributes for ELANE Gene

    Size:
    267 amino acids
    Molecular mass:
    28518 Da
    Quaternary structure:
    • Interacts with NOTCH2NL.
    SequenceCaution:
    • Sequence=CAA29300.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ELANE Gene

neXtProt entry for ELANE Gene

Protein Expression for ELANE Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ELANE Gene

P08246:
  • GDSGSPL
  • VLQELNVTVVT

Post-translational modifications for ELANE Gene

  • Glycosylation at Asn88, Asn124, and Asn173
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for ELANE Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ELANE Gene

Gene Families for ELANE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ELANE Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for ELANE Gene

GenScript: Design optimal peptide antigens:
  • Neutrophil elastase (B2MUD5_HUMAN)
  • PMN elastase (ELNE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08246

UniProtKB/Swiss-Prot:

ELNE_HUMAN :
  • Belongs to the peptidase S1 family. Elastase subfamily.
Family:
  • Belongs to the peptidase S1 family. Elastase subfamily.
genes like me logo Genes that share domains with ELANE: view

Function for ELANE Gene

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  6. Cell Lines for research

Molecular function for ELANE Gene

UniProtKB/Swiss-Prot Function:
Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.; EC=3.4.21.37;.

Enzyme Numbers (IUBMB) for ELANE Gene

Phenotypes From GWAS Catalog for ELANE Gene

Gene Ontology (GO) - Molecular Function for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 6980881
GO:0003714 transcription corepressor activity IMP 19506020
GO:0004175 endopeptidase activity IDA 6980881
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 12114510
genes like me logo Genes that share ontologies with ELANE: view
genes like me logo Genes that share phenotypes with ELANE: view

Human Phenotype Ontology for ELANE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ELANE Gene

MGI Knock Outs for ELANE:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELANE

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ELANE Gene

Localization for ELANE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELANE Gene

Cytoplasmic vesicle, phagosome. Note=Localized in phagolysosomes following ingestion of E.coli by neutrophils. {ECO:0000269 PubMed:10947984}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELANE gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 3
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 20421939
GO:0005737 cytoplasm IDA 19506020
GO:0009986 cell surface IDA 12114510
GO:0017053 transcriptional repressor complex IDA 19506020
genes like me logo Genes that share ontologies with ELANE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELANE Gene

Pathways & Interactions for ELANE Gene

genes like me logo Genes that share pathways with ELANE: view

Pathways by source for ELANE Gene

2 BioSystems pathways for ELANE Gene
1 GeneGo (Thomson Reuters) pathway for ELANE Gene
  • Cell adhesion_Cell-matrix glycoconjugates

SIGNOR curated interactions for ELANE Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19506020
GO:0001878 response to yeast IEA --
GO:0002438 acute inflammatory response to antigenic stimulus IBA 21873635
GO:0002523 leukocyte migration involved in inflammatory response IEA --
GO:0002812 biosynthetic process of antibacterial peptides active against Gram-negative bacteria IDA 20421939
genes like me logo Genes that share ontologies with ELANE: view

Drugs & Compounds for ELANE Gene

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(82) Drugs for ELANE Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-1-proteinase inhibitor Approved Pharma Target, inhibitor 0
Filgrastim Approved Pharma Target, other/unknown 0
Pegfilgrastim Approved Pharma Enzyme, substrate 0
Erdosteine Approved, Investigational Pharma 7
Freselestat Experimental, Investigational Pharma Target, inhibitor 0

(69) Additional Compounds for ELANE Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ONO 6818
208848-19-5

(3) Tocris Compounds for ELANE Gene

Compound Action Cas Number
ONO 6818 High affinity and selective human neutrophil elastase 1 (HNE1) inhibitor; orally active 208848-19-5
Sivelestat sodium salt Selective leukocyte elastase inhibitor 150374-95-1
SSR 69071 Potent, orally active human leukocyte elastase inhibitor 344930-95-6

(7) ApexBio Compounds for ELANE Gene

Compound Action Cas Number
Alvelestat NE inhibitor 848141-11-7
DMP 777 Leukocyte elastase (HLE) inhibitor 157341-41-8
Elastase Inhibitor, SPCK HLE inhibitor 65144-34-5
GW311616 198062-54-3
GW311616 hydrochloride HNE inhibitor 197890-44-1
Sivelestat sodium salt Leukocyte elastase inhibitor 150374-95-1
SSR 69071 HLE inhibitor 344930-95-6
genes like me logo Genes that share compounds with ELANE: view

Drug products for research

Transcripts for ELANE Gene

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mRNA/cDNA for ELANE Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELANE

Alternative Splicing Database (ASD) splice patterns (SP) for ELANE Gene

No ASD Table

Relevant External Links for ELANE Gene

GeneLoc Exon Structure for
ELANE

Expression for ELANE Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELANE Gene

mRNA expression in normal human tissues for ELANE Gene
mRNA expression by GTEx for ELANE GenemRNA expression by BioGPS for ELANE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELANE Gene

This gene is overexpressed in Whole Blood (x40.0).

Protein differential expression in normal tissues from HIPED for ELANE Gene

This gene is overexpressed in Neutrophil (29.5), Lavage (7.4), and Monocytes (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELANE Gene



Protein tissue co-expression partners for ELANE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELANE

SOURCE GeneReport for Unigene cluster for ELANE Gene:

Hs.99863

mRNA Expression by UniProt/SwissProt for ELANE Gene:

P08246-ELNE_HUMAN
Tissue specificity: Bone marrow cells. Neutrophil (PubMed:10947984).

Evidence on tissue expression from TISSUES for ELANE Gene

  • Blood(4.7)
  • Lung(4.6)
  • Liver(4.6)
  • Bone marrow(3.8)
  • Heart(2.7)
  • Intestine(2.5)
  • Skin(2.5)
  • Kidney(2.4)
  • Eye(2.3)
  • Nervous system(2.3)
  • Pancreas(2.2)
  • Spleen(2.1)
  • Muscle(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELANE Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ELANE: view

Primer products for research

Orthologs for ELANE Gene

This gene was present in the common ancestor of mammals.

Orthologs for ELANE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ELANE 29 30
  • 94.81 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ELANE 29
  • 79.58 (n)
ELA2 30
  • 68 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ELANE 29
  • 76.89 (n)
ELA2 30
  • 63 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Elane 29
  • 73.18 (n)
Mouse
(Mus musculus)
 Mammalia Elane 29 16 30
  • 72.56 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ELANE 30
  • 57 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ELANE 30
  • 57 (a)
 OneToOne
Species where no ortholog for ELANE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ELANE Gene

ENSEMBL:
Gene Tree for ELANE (if available)
TreeFam:
Gene Tree for ELANE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELANE: view image
Alliance of Genome Resources:
Additional Orthologs for ELANE

Paralogs for ELANE Gene

Paralogs for ELANE Gene

(40) SIMAP similar genes for ELANE Gene using alignment to 1 proteins:

  • ELNE_HUMAN
genes like me logo Genes that share paralogs with ELANE: view

Variants for ELANE Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELANE Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1007342 Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 855,956(+) A/C
NM_001972.4(ELANE):c.598-2A>C 		SPLICE_ACCEPTOR
1008375 Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 856,004(+) T/A
NM_001972.4(ELANE):c.644T>A (p.Ile215Asn) 		MISSENSE
1009601 Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 855,770(+) G/T
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser) 		MISSENSE
1010779 Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 856,104(+) C/G
NM_001972.4(ELANE):c.744C>G (p.Arg248=) 		SYNONYMOUS
1011778 Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 853,323(+) C/T
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELANE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ELANE Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
dgv1679n106 CNV deletion 24896259
esv2717799 CNV deletion 23290073
nsv470101 CNV loss 18288195
nsv953938 CNV deletion 24416366

Variation tolerance for ELANE Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELANE Gene

Human Gene Mutation Database (HGMD)
ELANE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELANE
Leiden Open Variation Database (LOVD)
ELANE

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELANE Gene

Disorders for ELANE Gene

MalaCards: The human disease database

(99) MalaCards diseases for ELANE Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cyclic neutropenia
  • cyclic hematopoiesis
neutropenia, severe congenital, 1, autosomal dominant
  • scn1
autosomal dominant severe congenital neutropenia
  • severe congenital neutropenia autosomal dominant
neutropenia
  • leukopenia
severe congenital neutropenia
  • congenital agranulocytosis
- elite association - COSMIC cancer census association via MalaCards
Search ELANE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELNE_HUMAN
  • Cyclic haematopoiesis (CH) [MIM:162800]: 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. {ECO:0000269 PubMed:10581030, ECO:0000269 PubMed:11001877, ECO:0000269 PubMed:14673143, ECO:0000269 PubMed:14962902, ECO:0000269 PubMed:23463630}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]: A disorder of hematopoiesis characterized by 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. {ECO:0000269 PubMed:11001877, ECO:0000269 PubMed:11675333, ECO:0000269 PubMed:12091371, ECO:0000269 PubMed:14962902, ECO:0000269 PubMed:17436313, ECO:0000269 PubMed:18946670, ECO:0000269 PubMed:19036076, ECO:0000269 PubMed:19415009, ECO:0000269 PubMed:19927291, ECO:0000269 PubMed:20220065, ECO:0000269 PubMed:20803142, ECO:0000269 PubMed:21425445, ECO:0000269 PubMed:23463630}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ELANE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ELANE: view

No data available for Genatlas for ELANE Gene

Publications for ELANE Gene

  1. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. (PMID: 10581030) Horwitz M … Dale DC (Nature genetics 1999) 3 4 22 72
  2. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. (PMID: 23463630) Germeshausen M … Ballmaier M (Human mutation 2013) 3 4 72
  3. Human leukocyte elastase and cathepsin G are specific inhibitors of C5a-dependent neutrophil enzyme release and chemotaxis. (PMID: 15140022) Tralau T … Wiedow O (Experimental dermatology 2004) 3 4 22
  4. A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. (PMID: 14673143) Duan Z … Horwitz M (Molecular and cellular biology 2004) 3 4 72
  5. 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: 11675333) Ancliff PJ … Linch DC (Blood 2001) 3 4 22

ExternalLinks

View latest publications for ELANE gene in Mastermind

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