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ELANE (elastase, neutrophil expressed)

Identity

Alias_namesELA2
elastase 2
Alias_symbol (synonym)NE
HNE
HLE
Other aliasGE
PMN-E
SCN1
HGNC (Hugo) ELANE
LocusID (NCBI) 1991
Atlas_Id 413
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 852209 and ends at 856246 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Congenital neutropenia Familial Myeloproliferative Disorders


External links

Nomenclature
HGNC (Hugo)ELANE   3309
LRG (Locus Reference Genomic)LRG_57
Cards
Entrez_Gene (NCBI)ELANE  1991  elastase, neutrophil expressed
AliasesELA2; GE; HLE; HNE; 
NE; PMN-E; SCN1
GeneCards (Weizmann)ELANE
Ensembl hg19 (Hinxton)ENSG00000197561 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197561 [Gene_View]  chr19:852209-856246 [Contig_View]  ELANE [Vega]
ICGC DataPortalENSG00000197561
TCGA cBioPortalELANE
AceView (NCBI)ELANE
Genatlas (Paris)ELANE
WikiGenes1991
SOURCE (Princeton)ELANE
Genetics Home Reference (NIH)ELANE
Genomic and cartography
GoldenPath hg38 (UCSC)ELANE  -     chr19:852209-856246 +  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELANE  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblELANE - 19p13.3 [CytoView hg19]  ELANE - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIELANE [Mapview hg19]  ELANE [Mapview hg38]
OMIM130130   162800   202700   
Gene and transcription
Genbank (Entrez)BC074816 BC074817 BI254663 CD613590 D00187
RefSeq transcript (Entrez)NM_001972
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_009627 NT_187622
Consensus coding sequences : CCDS (NCBI)ELANE
Cluster EST : UnigeneHs.99863 [ NCBI ]
CGAP (NCI)Hs.99863
Alternative Splicing GalleryENSG00000197561
Gene ExpressionELANE [ NCBI-GEO ]   ELANE [ EBI - ARRAY_EXPRESS ]   ELANE [ SEEK ]   ELANE [ MEM ]
Gene Expression Viewer (FireBrowse)ELANE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1991
GTEX Portal (Tissue expression)ELANE
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08246   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08246  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08246
Splice isoforms : SwissVarP08246
Catalytic activity : Enzyme3.4.21.37 [ Enzyme-Expasy ]   3.4.21.373.4.21.37 [ IntEnz-EBI ]   3.4.21.37 [ BRENDA ]   3.4.21.37 [ KEGG ]   
PhosPhoSitePlusP08246
Domaine pattern : Prosite (Expaxy)TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Peptidase_S1_PA    Peptidase_S1A    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00089   
Domain families : Smart (EMBL)Tryp_SPc (SM00020)  
Conserved Domain (NCBI)ELANE
DMDM Disease mutations1991
Blocks (Seattle)ELANE
PDB (SRS)1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
PDB (PDBSum)1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
PDB (IMB)1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
PDB (RSDB)1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
Structural Biology KnowledgeBase1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
SCOP (Structural Classification of Proteins)1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
CATH (Classification of proteins structures)1B0F    1H1B    1HNE    1PPF    1PPG    2RG3    2Z7F    3Q76    3Q77    4NZL    4WVP    5A09    5A0A    5A0B    5A0C    5A8X    5A8Y    5A8Z    5ABW   
SuperfamilyP08246
Human Protein AtlasENSG00000197561
Peptide AtlasP08246
HPRD00554
IPIIPI00027769   
Protein Interaction databases
DIP (DOE-UCLA)P08246
IntAct (EBI)P08246
FunCoupENSG00000197561
BioGRIDELANE
STRING (EMBL)ELANE
ZODIACELANE
Ontologies - Pathways
QuickGOP08246
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription corepressor activity  response to yeast  protease binding  acute inflammatory response to antigenic stimulus  leukocyte migration involved in inflammatory response  endopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  extracellular region  extracellular region  extracellular space  cytoplasm  proteolysis  cellular calcium ion homeostasis  phagocytosis  heparin binding  peptidase activity  response to UV  cell surface  transcriptional repressor complex  antimicrobial humoral response  cytokine binding  extracellular matrix disassembly  secretory granule  protein catabolic process  response to lipopolysaccharide  azurophil granule lumen  specific granule lumen  defense response to bacterium  neutrophil degranulation  positive regulation of MAP kinase activity  negative regulation of growth of symbiont in host  negative regulation of chemokine biosynthetic process  negative regulation of interleukin-8 biosynthetic process  positive regulation of interleukin-8 biosynthetic process  positive regulation of smooth muscle cell proliferation  negative regulation of inflammatory response  positive regulation of immune response  negative regulation of chemotaxis  extracellular exosome  neutrophil mediated killing of fungus  positive regulation of leukocyte tethering or rolling  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription corepressor activity  response to yeast  protease binding  acute inflammatory response to antigenic stimulus  leukocyte migration involved in inflammatory response  endopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  extracellular region  extracellular region  extracellular space  cytoplasm  proteolysis  cellular calcium ion homeostasis  phagocytosis  heparin binding  peptidase activity  response to UV  cell surface  transcriptional repressor complex  antimicrobial humoral response  cytokine binding  extracellular matrix disassembly  secretory granule  protein catabolic process  response to lipopolysaccharide  azurophil granule lumen  specific granule lumen  defense response to bacterium  neutrophil degranulation  positive regulation of MAP kinase activity  negative regulation of growth of symbiont in host  negative regulation of chemokine biosynthetic process  negative regulation of interleukin-8 biosynthetic process  positive regulation of interleukin-8 biosynthetic process  positive regulation of smooth muscle cell proliferation  negative regulation of inflammatory response  positive regulation of immune response  negative regulation of chemotaxis  extracellular exosome  neutrophil mediated killing of fungus  positive regulation of leukocyte tethering or rolling  
Pathways : BIOCARTAProepithelin Conversion to Epithelin and Wound Repair Control [Genes]   
Pathways : KEGGTranscriptional misregulation in cancer    Systemic lupus erythematosus   
NDEx NetworkELANE
Atlas of Cancer Signalling NetworkELANE
Wikipedia pathwaysELANE
Orthology - Evolution
OrthoDB1991
GeneTree (enSembl)ENSG00000197561
Phylogenetic Trees/Animal Genes : TreeFamELANE
HOVERGENP08246
HOGENOMP08246
Homologs : HomoloGeneELANE
Homology/Alignments : Family Browser (UCSC)ELANE
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELANE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELANE
dbVarELANE
ClinVarELANE
1000_GenomesELANE 
Exome Variant ServerELANE
ExAC (Exome Aggregation Consortium)ELANE (select the gene name)
Genetic variants : HAPMAP1991
Genomic Variants (DGV)ELANE [DGVbeta]
DECIPHERELANE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELANE 
Mutations
ICGC Data PortalELANE 
TCGA Data PortalELANE 
Broad Tumor PortalELANE
OASIS PortalELANE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELANE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELANE
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch ELANE
DgiDB (Drug Gene Interaction Database)ELANE
DoCM (Curated mutations)ELANE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELANE (select a term)
intoGenELANE
Cancer3DELANE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130130    162800    202700   
Orphanet822    5534   
MedgenELANE
Genetic Testing Registry ELANE
NextProtP08246 [Medical]
TSGene1991
GENETestsELANE
Target ValidationELANE
Huge Navigator ELANE [HugePedia]
snp3D : Map Gene to Disease1991
BioCentury BCIQELANE
ClinGenELANE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1991
Chemical/Pharm GKB GenePA27735
Clinical trialELANE
Miscellaneous
canSAR (ICR)ELANE (select the gene name)
Probes
Litterature
PubMed245 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELANE
EVEXELANE
GoPubMedELANE
iHOPELANE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:32:24 CEST 2017

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