ENSMUSG00000055493


Mus musculus

Features
Gene ID: ENSMUSG00000055493
  
Biological name :Epm2a
  
Synonyms : Epm2a / Laforin / Q9WUA5
  
Possible biological names infered from orthology : EPM2A, laforin glucan phosphatase / O95278
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: A1
Gene start: 11343404
Gene end: 11459644
  
Corresponding Affymetrix probe sets: 10361754 (MoGene1.0st)   1421553_at (Mouse Genome 430 2.0 Array)   1439677_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000066050
NCBI entrez gene - 13853     See in Manteia.
MGI - MGI:1341085
RefSeq - NM_010146
RefSeq Peptide - NP_034276
swissprot - Q9WUA5
Ensembl - ENSMUSG00000055493
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epm2aENSDARG00000059044Danio rerio
 EPM2AENSGALG00000012275Gallus gallus
 EPM2AENSG00000112425Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000340  Dual specificity phosphatase, catalytic domain
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR002044  Carbohydrate binding module family 20
 IPR013783  Immunoglobulin-like fold
 IPR013784  Carbohydrate-binding-like fold
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR020422  Dual specificity protein phosphatase domain
 IPR024950  Dual specificity phosphatase
 IPR029021  Protein-tyrosine phosphatase-like
 IPR034831  Laforin, CBM20 domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005977 glycogen metabolic process ISS
 biological_processGO:0006470 protein dephosphorylation ISO
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0007399 nervous system development IMP
 biological_processGO:0010923 negative regulation of phosphatase activity ISO
 biological_processGO:0016239 positive regulation of macroautophagy ISO
 biological_processGO:0016311 dephosphorylation ISO
 biological_processGO:0032007 negative regulation of TOR signaling ISO
 biological_processGO:0035305 negative regulation of dephosphorylation ISO
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0046838 phosphorylated carbohydrate dephosphorylation IEA
 biological_processGO:0046959 habituation IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005844 polysome IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane IEA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004722 protein serine/threonine phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008138 protein tyrosine/serine/threonine phosphatase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA
 molecular_functionGO:0019203 carbohydrate phosphatase activity IEA
 molecular_functionGO:0030246 carbohydrate binding ISO
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity ISO
 molecular_functionGO:2001069 glycogen binding IEA
 molecular_functionGO:2001070 starch binding IEA


Pathways (from Reactome)
Pathway description
Glycogen synthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000243 myoclonus "involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000811 hippocampal neuron degeneration "a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:72427]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ppp1r3ctm1Adpr/Ppp1r3ctm1Adpr
Genetic Background: involves: C57BL/6J

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001433 polyphagia "eating to excess" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001488 increased startle reflex "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001552 increased circulating triglyceride level "higher than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:65416]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001554 increased circulating free fatty acid level "higher than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001869 pancreas inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the pancreas " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Rarbtm1Mma/Rarbtm1Mma,Rargtm1Ipc/Rargtm1Ipc
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001944 abnormal pancreas morphology "malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Rarbtm1Mma/Rarbtm1Mma,Rargtm1Ipc/Rargtm1Ipc
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002024 T cell derived lymphoma "group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gt(ROSA)26Sortm3(tetO-EGFP,-RNAi:T)Bgh/Gt(ROSA)26Sor
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * NMRI

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm3(tetO-EGFP,-RNAi:T)Bgh/Gt(ROSA)26Sor
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * NMRI

 MP:0002575 increased circulating ketone body level "greater than the normal amount of acetoacetate, 3-hydroxybutyrate and acteone in the blood; produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator, J:71968]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002799 abnormal passive avoidance behavior "defects in the ability of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously with prolonged latency" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004889 increased energy expenditure "increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004994 abnormal brain wave pattern "any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005220 abnormal exocrine pancreas morphology "malformation of the acinar gland portion of the pancreas that secretes digestive enzymes " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rarbtm1Mma/Rarbtm1Mma,Rargtm1Ipc/Rargtm1Ipc
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005289 increased oxygen consumption "greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005292 improved glucose tolerance "better than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin sensitivity; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0008078 increased CD8-positive T cell number "greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rarbtm1Mma/Rarbtm1Mma,Rargtm1Ipc/Rargtm1Ipc
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0008877 abnormal DNA methylation "any anomaly in the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine of DNA" [GO:0006306]
Show

Allelic Composition: Gt(ROSA)26Sortm3(tetO-EGFP,-RNAi:T)Bgh/Gt(ROSA)26Sor
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * NMRI

 MP:0009355 increased liver triglyceride level "higher than normal concentration of triacylglycerols in the liver" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010027 increased liver cholesterol level "greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010378 increased respiratory quotient "increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011941 increased fluid intake "increase in the total amount of fluid taken in over time when compared to the normal state" [MGI:csmith]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0014063 Lafora bodies "abnormal presence of insoluble periodic acid-Schiff-positive deposits that contain polyglucosan, a poorly branched form of glycogen, seen in familial myoclonic epilepsy; Lafora bodies develop in many tissues, including muscle, liver, and neurons, but it is generally believed that Lafora body accumulation ultimately leads to neuronal cell death" [PMID:20538597]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Epm2atm1Kzy/Epm2atm1Kzy
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Epm2atm1Kzy/Epm2atm1Kzy,Ppp1r3ctm1Adpr/Ppp1r3ctm1Adpr
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0014071 increased cardiac muscle glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle" [MGI:Anna]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0014142 increased body fat mass "increased physical bulk or volume of fat in the whole body" [MGI:csmith]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0030018 increased cardiac cell glucose uptake "increased ability of the cells of the heart to take in glucose" [MGI:anna]
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Allelic Composition: Oprk1tm1Kff/Oprk1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000003865 Gys1 / Q9Z1E4 / Glycogen [starch] synthase, muscle / P13807* / glycogen synthase 1*  / reaction
 ENSMUSG00000055493 Epm2a / Q9WUA5 / Laforin / O95278* / EPM2A, laforin glucan phosphatase*  / complex
 ENSMUSG00000067279 Q7TMB3 / Ppp1r3c / Protein phosphatase 1 regulatory subunit 3C / Q9UQK1*  / reaction
 ENSMUSG00000019528 Gyg / Q9R062 / glycogenin / GYG1* / P46976* / glycogenin 1*  / reaction






 

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