EPM2A report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0046835Biological processcarbohydrate phosphorylation
GO_0006470Biological processprotein dephosphorylation
GO_0045786Biological processnegative regulation of cell cycle
GO_0001558Biological processregulation of cell growth
GO_0005978Biological processglycogen biosynthetic process
GO_0010629Biological processnegative regulation of gene expression
GO_0046959Biological processhabituation
GO_0000045Biological processautophagosome assembly
GO_0005977Biological processglycogen metabolic process
GO_0015813Biological processL-glutamate transmembrane transport
GO_0032007Biological processnegative regulation of TOR signaling
GO_0035335Biological processpeptidyl-tyrosine dephosphorylation
GO_0031396Biological processregulation of protein ubiquitination
GO_0007005Biological processmitochondrion organization
GO_0016239Biological processpositive regulation of macroautophagy
GO_0033137Biological processnegative regulation of peptidyl-serine phosphorylation
GO_0016055Biological processWnt signaling pathway
GO_1903076Biological processregulation of protein localization to plasma membrane
GO_0061136Biological processregulation of proteasomal protein catabolic process
GO_0006816Biological processcalcium ion transport
GO_0042306Biological processregulation of protein import into nucleus
GO_0014009Biological processglial cell proliferation
GO_0043161Biological processproteasome-mediated ubiquitin-dependent protein catabolic process
GO_0005886Cellular componentplasma membrane
GO_0098556Cellular componentcytoplasmic side of rough endoplasmic reticulum membrane
GO_0043204Cellular componentperikaryon
GO_0005634Cellular componentnucleus
GO_0005654Cellular componentnucleoplasm
GO_0030425Cellular componentdendrite
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_2001070Molecular functionstarch binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0017018Molecular functionmyosin phosphatase activity
GO_0030246Molecular functioncarbohydrate binding
GO_0019203Molecular functioncarbohydrate phosphatase activity
GO_0004722Molecular functionprotein serine/threonine phosphatase activity
GO_2001069Molecular functionglycogen binding
GO_0004373Molecular functionglycogen (starch) synthase activity
GO_0005515Molecular functionprotein binding
GO_0004725Molecular functionprotein tyrosine phosphatase activity

IV. Literature review

[source]
Gene nameEPM2A
Protein nameLaforin, isoform 9
EPM2A glucan phosphatase, laforin
Laforin (EC 3.1.3.-) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase)
Synonyms
DescriptionFUNCTION: Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates . Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) . Has been shown to dephosphorylate MAPT (By similarity). Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin . Also promotes proteasome-independent protein degradation through the macroautophagy pathway . .; FUNCTION: [Isoform 2]: Does not bind to glycogen . Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 . .; FUNCTION: [Isoform 7]: Has phosphatase activity (in vitro). .

AccessionsENST00000450221.6
ENST00000367519.9 [O95278-1]
B3EWF7
ENST00000640351.1
ENST00000638778.1 [O95278-8]
ENST00000639049.1
ENST00000638554.1
ENST00000638262.1 [O95278-5]
ENST00000639849.1
ENST00000611340.5 [O95278-8]
A0A1W2PPT8
ENST00000638717.1
A0A1W2PP62
ENST00000639423.1 [O95278-8]
ENST00000638783.1 [O95278-8]
ENST00000640225.1
A0A1W2PPJ6
A0A1W2PRC9
ENST00000639465.1 [O95278-8]
A0A1W2PQ84
O95278
ENST00000640980.1
H0Y7S8
A0A1W2PRS5
ENST00000435470.2 [O95278-2]