EPM2A [The Human Chemical-Genetic Interaction Map Project]

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======= EPM2A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EPM2A
  * **<color #00a2e8>Official Name</color>**: EPM2A glucan phosphatase, laforin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7957|7957]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/"B3EWF7|O95278"|"B3EWF7|O95278"]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EPM2A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EPM2A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607566|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DSPc|
|CBM 20|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of TOR signaling|
|positive regulation of macroautophagy|
|regulation of TOR signaling|
|positive regulation of autophagy|
|regulation of macroautophagy|
|regulation of autophagy|
|positive regulation of cellular catabolic process|
|positive regulation of catabolic process|
|negative regulation of intracellular signal transduction|
|regulation of cellular catabolic process|
|regulation of catabolic process|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|negative regulation of response to stimulus|
|regulation of intracellular signal transduction|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|2.15|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 8542
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.05 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EPM2A Expression in NALM6 Cells: 4.05'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>