Gene table of EPM2A : EPM2A, laforin glucan phosphatase

Gene-disease associations table

Disease IDDisease nameSource of annotation with EPM2AOMIM linkNumber of associated genesgenes
PS254800EPILEPSY, PROGRESSIVE MYOCLONICClinVar, OMIM, HUMSAVAR link to OMIM 12CERS1, PRICKLE1, KCTD7, SCARB2, CSTB, TBC1D24, PRDM8, LMNB2, NHLRC1, KCNC1, GOSR2, EPM2A

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Annotation of the gene EPM2A

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Glycogen storage diseasesR-HSA-32291219.52
Metabolism of carbohydratesR-HSA-713874.93
Myoclonic epilepsy of LaforaR-HSA-37856539.52
Diseases of carbohydrate metabolismR-HSA-56630848.28
Diseases of metabolismR-HSA-56689146.57
Glycogen synthesisR-HSA-33220779.08
MetabolismR-HSA-14307282.34
DiseaseR-HSA-16436853.33
Glucose metabolismR-HSA-703266.77
Associated GO terms for Molecular function
GO termGO IDGO IC
carbohydrate phosphatase activityGO:00192037.34
phosphoprotein phosphatase activityGO:00047214.55
phosphatase activityGO:00167914.11
starch bindingGO:20010708.64
protein tyrosine/serine/threonine phosphatase activityGO:00081385.91
hydrolase activityGO:00167871.9
protein tyrosine phosphatase activityGO:00047255.09
polysaccharide bindingGO:00302476.65
carbohydrate bindingGO:00302464.17
hydrolase activity, acting on ester bondsGO:00167883.1
protein serine/threonine phosphatase activityGO:00047225.58
phosphoric ester hydrolase activityGO:00425783.82
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
pattern bindingGO:00018716.65