Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1991
Gene name Gene Name - the full gene name approved by the HGNC.
Elastase, neutrophil expressed
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELANE
Synonyms (NCBI Gene) Gene synonyms aliases
ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCN1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez 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 pr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28931611 T>C Pathogenic Coding sequence variant, missense variant
rs57246956 G>A,T Pathogenic Coding sequence variant, missense variant
rs137854445 G>A,C Pathogenic Coding sequence variant, missense variant
rs137854446 G>C,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs137854447 C>A,G,T Pathogenic Coding sequence variant, missense variant
Transcription factors
Transcription factor Regulation Reference
CEBPA Activation 19620402
CEBPA Unknown 16247445
GFI1 Unknown 18328744
LEF1 Activation 14594802;19620402
MYB Unknown 16247445
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19506020
GO:0001878 Process Response to yeast IEA
GO:0002020 Function Protease binding IPI 6980881
GO:0002438 Process Acute inflammatory response to antigenic stimulus IBA 21873635
GO:0002523 Process Leukocyte migration involved in inflammatory response IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
130130 3309 ENSG00000197561
Protein
UniProt ID P08246
Protein name Neutrophil elastase (EC 3.4.21.37) (Bone marrow serine protease) (Elastase-2) (Human leukocyte elastase) (HLE) (Medullasin) (PMN elastase)
Protein function Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed
PDB 1B0F , 1H1B , 1HNE , 1PPF , 1PPG , 2RG3 , 2Z7F , 3Q76 , 3Q77 , 4NZL , 4WVP , 5A09 , 5A0A , 5A0B , 5A0C , 5A8X , 5A8Y , 5A8Z , 5ABW , 6E69 , 6F5M , 6SMA , 7CBK , 7WHU , 8D4Q , 8D4U , 8D7I , 8D7K , 8G24 , 8G25 , 8G26 , 8QGX , 8VK5 , 9ASS , 9ASX , 9ATK , 9ATU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 30 242 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Bone marrow cells. Neutrophil (PubMed:10947984). {ECO:0000269|PubMed:10947984}.
Sequence
Sequence length 267
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neutrophil extracellular trap formation
Transcriptional misregulation in cancer
Systemic lupus erythematosus
  Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Neutrophil degranulation
Antimicrobial peptides
Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aplastic anemia Aplastic Anemia rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992
View all (104 more)
Congenital neutropenia Congenital neutropenia, Autosomal dominant severe congenital neutropenia rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475
View all (30 more)
28297620
Hemangioma Hemangioma rs121917766
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 22098946
Acute On Chronic Liver Failure Associate 34552111
Adenocarcinoma Associate 26177797, 27927741
alpha 1 Antitrypsin Deficiency Associate 1653278, 28408179, 30633749, 38087060, 7028785
alpha 1 Antitrypsin Deficiency Inhibit 33556558, 3500183
alpha 1 Antitrypsin Deficiency Autosomal Recessive Associate 1541671
Anemia Hemolytic Autoimmune Associate 37118811
Angioedemas Hereditary Associate 26654922
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 37118811
Aortic Aneurysm Thoracic Stimulate 30957625