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Aliases for ELANE Gene

Aliases for ELANE Gene

  • Elastase, Neutrophil Expressed 2 3 5
  • Medullasin 2 3 4
  • Bone Marrow Serine Protease 3 4
  • Elastase 2, Neutrophil 2 3
  • Neutrophil Elastase 2 3
  • Leukocyte Elastase 2 3
  • PMN Elastase 3 4
  • Elastase-2 3 4
  • ELA2 3 4
  • HLE 3 4
  • Granulocyte-Derived Elastase 3
  • Polymorphonuclear Elastase 3
  • Human Leukocyte Elastase 4
  • EC 3.4.21.37 4
  • EC 3.4.21 61
  • PMN-E 3
  • SCN1 3
  • HNE 3
  • GE 3
  • NE 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 Neutropenia, Cyclic and Neutropenia, Severe Congenital 1, Autosomal Dominant. Among its related pathways are Defensins and Degradation of the extracellular matrix. 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 for ELANE Gene

  • Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.

Gene Wiki entry for ELANE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELANE Gene

Genomics for ELANE Gene

Regulatory Elements for ELANE Gene

Enhancers for ELANE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G000906 2 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +57.6 57562 4.7 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 CFD MIDN ARHGAP45 R3HDM4 ABCA7 ELANE PRTN3 GZMM SBNO2 CIRBP
GH19G000747 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -99.1 -99082 9.4 ATF1 FOXA2 PKNOX1 ARID4B SIN3A BRCA1 ZBTB7B ZNF143 FOS SP5 MISP PRTN3 ELANE CFD CIRBP ENSG00000268798 FSTL3 PLPP2 TPGS1 GC19P000749
GH19G000903 1 ENCODE dbSUPER 13.5 +52.7 52679 0.2 KLF1 KLF17 ZIC2 HIC1 GLIS2 ZFHX2 PATZ1 KLF7 PRDM10 EGR2 CFD ELANE PRTN3 R3HDM4 RNU6-9
GH19G000907 1 ENCODE dbSUPER 13.5 +52.4 52359 0.2 PKNOX1 KLF17 ZIC2 HIC1 GLIS2 PATZ1 ADNP KLF7 PRDM10 EGR2 CFD ELANE PRTN3 R3HDM4 RNU6-9
GH19G000898 0.9 ENCODE dbSUPER 13.5 +47.9 47876 0.9 MXI1 RFX1 AGO1 BMI1 RFX5 POLR2A RFX3 PATZ1 MYNN GLIS1 CFD ELANE PRTN3 MED16 RNU6-9 R3HDM4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELANE on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ELANE Gene

Chromosome:
19
Start:
850,997 bp from pter
End:
856,250 bp from pter
Size:
5,254 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for ELANE Gene

Proteins for ELANE Gene

  • 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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ELANE Gene

neXtProt entry for ELANE Gene

Selected DME Specific Peptides for ELANE Gene

P08246:
  • GDSGSPL
  • VLQELNVTVVT

Post-translational modifications for ELANE Gene

  • Glycosylation at Asn88, isoforms=124, and Asn173
  • Modification sites at PhosphoSitePlus

Other Protein References for ELANE Gene

Antibody Products

  • R&D Systems Antibodies for ELANE (Neutrophil Elastase/ELA2)
  • Cloud-Clone Corp. Antibodies for ELANE

Protein Products

Domains & Families for ELANE Gene

Suggested Antigen Peptide Sequences for ELANE Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ELANE Gene

Function for ELANE Gene

Molecular function for ELANE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of proteins, including elastin. Preferential cleavage: Val- -Xaa > Ala- -Xaa.
UniProtKB/Swiss-Prot Function:
Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.

Enzyme Numbers (IUBMB) for ELANE Gene

Gene Ontology (GO) - Molecular Function for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001106 RNA polymerase II transcription corepressor activity IMP 19506020
GO:0002020 protease binding IPI 6980881
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 Model Products

Inhibitory RNA Products

Clone Products

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

Localization for ELANE Gene

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 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2

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 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 UniProtKB/Swiss-Prot for ELANE Gene

Pathways & Interactions for ELANE Gene

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

Gene Ontology (GO) - Biological Process for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 19506020
GO:0001878 response to yeast IEA --
GO:0002438 acute inflammatory response to antigenic stimulus IBA --
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

No data available for SIGNOR curated interactions for ELANE Gene

Drugs & Compounds for ELANE Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-1-proteinase inhibitor Approved Pharma inhibitor, Target 0
Filgrastim Approved Pharma Target, other/unknown 0
Pegfilgrastim Approved Pharma Target 0
Neulasta Approved January 2002 Pharma 0
Neutroval Approved August 2012 Pharma 0

(74) Additional Compounds for ELANE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for ELANE Gene

Compound Action Cas Number
ONO 6818 High affinity and selective human neutraphil 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

(8) 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 HNE inhibitor 111682-13-4
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

Transcripts for ELANE Gene

mRNA/cDNA for ELANE Gene

Unigene Clusters for ELANE Gene

Elastase, neutrophil expressed:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for ELANE Gene

GeneLoc Exon Structure for
ELANE
ECgene alternative splicing isoforms for
ELANE

Expression for ELANE Gene

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



Protein tissue co-expression partners for ELANE Gene

NURSA nuclear receptor signaling pathways regulating expression of ELANE Gene:

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.

Evidence on tissue expression from TISSUES for ELANE Gene

  • Blood(4.7)
  • Lung(4.7)
  • Liver(4.5)
  • Bone marrow(3.6)
  • Eye(2.4)
  • Heart(2.4)
  • Nervous system(2.3)
  • Skin(2.2)
  • Intestine(2.1)
  • Kidney(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
Organs:
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

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 34 35
  • 94.81 (n)
dog
(Canis familiaris)
Mammalia ELANE 34
  • 79.58 (n)
ELA2 35
  • 68 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELANE 34
  • 76.89 (n)
ELA2 35
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elane 34
  • 73.18 (n)
mouse
(Mus musculus)
Mammalia Elane 34 16 35
  • 72.56 (n)
oppossum
(Monodelphis domestica)
Mammalia ELANE 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELANE 35
  • 57 (a)
OneToOne
Species where no ortholog for ELANE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ELANE Gene

Paralogs for ELANE Gene

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

Variants for ELANE Gene

Sequence variations from dbSNP and Humsavar for ELANE Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs137854445 Pathogenic, Cyclic haematopoiesis (CH) [MIM:162800], Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] 856,019(+) CGTCC(A/C/G)GGGAG reference, missense
rs137854446 Pathogenic, Cyclic haematopoiesis (CH) [MIM:162800] 855,978(+) CCCTT(G/T)GTCTG reference, missense
rs137854447 Pathogenic, Cyclic haematopoiesis (CH) [MIM:162800], Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] 852,990(+) GATTG(A/C/G/T)GCCCA reference, missense
rs137854449 Pathogenic, Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] 853,338(+) TCGCC(A/G/T)TGCAG reference, missense
rs137854450 Pathogenic, Cyclic haematopoiesis (CH) [MIM:162800], Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] 855,574(+) CGGGT(A/C/T)GGCCA reference, missense, stop-gained

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)

Relevant External Links for ELANE Gene

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

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

Disorders for ELANE Gene

MalaCards: The human disease database

(79) MalaCards diseases for ELANE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, cyclic
  • cyclic hematopoiesis
neutropenia, severe congenital 1, autosomal dominant
  • scn1
severe congenital neutropenia autosomal dominant
  • autosomal dominant severe congenital neutropenia
elane-related neutropenia
  • ela2-related neutropenia
acute respiratory distress syndrome
  • adult respiratory distress syndrome
- 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 mutations 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 mutations affecting the gene represented in this entry.

Relevant External Links for ELANE

Human Genome Epidemiology (HuGE) Navigator
ELANE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELANE
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 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 P.J. … Linch D.C. (Blood 2001) 3 4 22 64
  2. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. (PMID: 10581030) Horwitz M. … Dale D.C. (Nat. Genet. 1999) 3 4 22 64
  3. Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells. (PMID: 2322278) Okano K. … Naruto M. (Biochem. Biophys. Res. Commun. 1990) 3 4 22 64
  4. Structure of the human neutrophil elastase gene. (PMID: 2902087) Takahashi H. … Crystal R.G. (J. Biol. Chem. 1988) 2 3 4 64
  5. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. (PMID: 23463630) Germeshausen M. … Ballmaier M. (Hum. Mutat. 2013) 3 4 64

Products for ELANE Gene

Sources for ELANE Gene

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