Gene Information
|
Gene Name
|
ELANE |
|
Gene ID
|
1991
|
|
Gene Full Name
|
elastase, neutrophil expressed |
|
Gene Alias
|
ELA2|GE|HLE|HNE|NE|PMN-E|SCN1 |
|
Transcripts
|
ENSG00000197561
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Vesicles;Golgi apparatus;Secreted to blood;
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted secreted proteins |
|
Uniport_ID
|
P08246
|
|
HGNC ID
|
HGNC:3309
|
|
OMIM ID
|
130130 |
|
Summary
|
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] |
Target gene [ELANE] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 5017239 |
chr19 |
224 |
26 |
4 |
254 |
View |
| 5017240 |
chr19 |
222 |
25 |
4 |
251 |
View |
| 5017241 |
chr19 |
4 |
0 |
0 |
4 |
View |
Target gene [ELANE] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE183048
|
Chip-seq |
24 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE169622
|
Methylation profiling (Array) |
9 |
Infinium MethylationEPIC |
|
GSE65858
|
Expression array |
270 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE181805
|
Expression array |
25 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE196215
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE140662
|
Expression array |
8 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE55542
|
Expression array |
36 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
C GSE143026
|
ATAC-seq;Chip-seq;RNA-seq |
30 |
Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_CESC
|
DNA methylation sequencing;RNA-seq |
288 |
TCGA |
|
GSE51993
|
Expression array |
48 |
Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE55550
|
Expression array |
155 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
GSE165883
|
RNA-seq |
20 |
Illumina NextSeq 500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE183048 - ELANE peak across samples
|
Peak Plot
|
> Dataset: GSE143026 - ELANE peak across samples
|
Peak Plot
|
|
|