Gene Information
|
Gene Name
|
EPM2A |
|
Gene ID
|
7957
|
|
Gene Full Name
|
EPM2A glucan phosphatase, laforin |
|
Gene Alias
|
EPM2|MELF|MELF2 |
|
Transcripts
|
ENSG00000112425
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm; 
|
|
Membrane Info
|
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
O95278
|
|
HGNC ID
|
HGNC:3413
|
|
OMIM ID
|
607566 |
|
Summary
|
This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018] |
Target gene [EPM2A] 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 |
| 5011374 |
chr6 |
5 |
0 |
3 |
8 |
View |
| 5012019 |
chr6 |
5 |
13 |
4 |
22 |
View |
Target gene [EPM2A] 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) |
|
GSE138080
|
Expression array |
35 |
Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version) |
|
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 - EPM2A peak across samples
|
Peak Plot
|
> Dataset: GSE143026 - EPM2A peak across samples
|
Peak Plot
|
|
|
HPV Target gene Detail Information
