Epm2a EPM2A glucan phosphatase, laforin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Epm2aprovided by RGD
Official Full Name: EPM2A glucan phosphatase, laforinprovided by RGD
Primary source: RGD:71047
See related: Ensembl:ENSRNOG00000040242 AllianceGenome:RGD:71047
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including glycogen (starch) synthase activity; phosphatase activity; and polysaccharide binding activity. Predicted to be involved in several processes, including carbohydrate phosphorylation; dephosphorylation; and glycogen metabolic process. Predicted to act upstream of or within several processes, including glycogen biosynthetic process; habituation; and regulation of cellular protein metabolic process. Predicted to be located in several cellular components, including cytoplasmic side of rough endoplasmic reticulum membrane; dendrite; and perikaryon. Predicted to be part of polysome. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Muscle (RPKM 96.5), Heart (RPKM 62.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1p13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (7547369..7673449)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (5727111..5845338)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (5448958..5571512)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Z19543 (e-PCR)
- UniSTS:163481

G47430 (e-PCR)
- UniSTS:108208

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	ISS Inferred from Sequence or Structural Similarity more info
enables carbohydrate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables carbohydrate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables carbohydrate phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glycogen (starch) synthase activity	IEA Inferred from Electronic Annotation more info
enables glycogen (starch) synthase activity	ISO Inferred from Sequence Orthology more info
enables glycogen binding	IEA Inferred from Electronic Annotation more info
NOT enables glycogen binding	ISO Inferred from Sequence Orthology more info
enables glycogen binding	ISO Inferred from Sequence Orthology more info
enables glycogen binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
NOT enables phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info
enables polysaccharide binding	ISO Inferred from Sequence Orthology more info
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine/serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables starch binding	IEA Inferred from Electronic Annotation more info
enables starch binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-glutamate transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within L-glutamate transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in autophagosome assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within autophagosome assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in carbohydrate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in glial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glycogen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in glycogen biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycogen metabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycogen metabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycogen metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in habituation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within habituation	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mitochondrion organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macroautophagy	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of proteasomal protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of protein import into nucleus	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic side of endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of rough endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of rough endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of rough endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: laforin

Names: EPM2A, laforin glucan phosphatase; LAFPTPase; epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; epilepsy, progressive myoclonus type 2A; glucan phosphatase; lafora PTPase

NP_001263691.1

EC 3.1.3.16

EC 3.1.3.48

XP_038962147.1

EC 3.1.3.16

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001276762.1 → NP_001263691.1 laforin

See identical proteins and their annotated locations for NP_001263691.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/Swiss-Prot

F1LPW7, Q91XQ2

UniProtKB/TrEMBL

A0A8L2QTS7

Related

ENSRNOP00000076978.1, ENSRNOT00000099572.1

Conserved Domains (2) summary

cd05806
Location:1 → 129

CBM20_laforin; Laforin protein tyrosine phosphatase, N-terminal CBM20 (carbohydrate-binding module, family 20) domain. Laforin, encoded by the EPM2A gene, is a dual-specificity phosphatase that dephosphorylates complex carbohydrates. Mutations in the gene encoding ...

cl21483
Location:158 → 304

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

7547369..7673449

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039106219.2 → XP_038962147.1 laforin isoform X1

Conserved Domains (1) summary

cd14526
Location:23 → 175

DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains