Details for: EPM2A

Gene ID: 7957

Symbol: EPM2A

Ensembl ID: ENSG00000112425

Description: EPM2A glucan phosphatase, laforin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 141.1165
    Cell Significance Index: -21.9500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 85.0012
    Cell Significance Index: -21.5600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 46.2909
    Cell Significance Index: -21.8600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.8433
    Cell Significance Index: -22.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.5897
    Cell Significance Index: -20.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.5955
    Cell Significance Index: -22.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.8143
    Cell Significance Index: 72.3400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.9300
    Cell Significance Index: 47.0900
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.7952
    Cell Significance Index: 18.1100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.3287
    Cell Significance Index: 16.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1625
    Cell Significance Index: 89.2100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1190
    Cell Significance Index: 212.9500
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.0988
    Cell Significance Index: 17.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9623
    Cell Significance Index: 54.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9388
    Cell Significance Index: 188.3300
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.7466
    Cell Significance Index: 10.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7023
    Cell Significance Index: 69.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6948
    Cell Significance Index: 249.2100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6050
    Cell Significance Index: 546.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4922
    Cell Significance Index: 14.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4340
    Cell Significance Index: 19.6700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3852
    Cell Significance Index: 266.3900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3795
    Cell Significance Index: 8.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3613
    Cell Significance Index: 22.2100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3591
    Cell Significance Index: 58.4100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3375
    Cell Significance Index: 66.9700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3109
    Cell Significance Index: 13.7500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2773
    Cell Significance Index: 30.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2569
    Cell Significance Index: 9.7300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2432
    Cell Significance Index: 16.3500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.2300
    Cell Significance Index: 3.7900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.2085
    Cell Significance Index: 2.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2018
    Cell Significance Index: 91.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1864
    Cell Significance Index: 4.6600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1787
    Cell Significance Index: 11.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1717
    Cell Significance Index: 3.7200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1401
    Cell Significance Index: 3.3600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1190
    Cell Significance Index: 7.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1156
    Cell Significance Index: 8.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1028
    Cell Significance Index: 193.6200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0829
    Cell Significance Index: 5.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0760
    Cell Significance Index: 2.6700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0704
    Cell Significance Index: 1.0400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0677
    Cell Significance Index: 42.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0671
    Cell Significance Index: 123.7800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0597
    Cell Significance Index: 0.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0597
    Cell Significance Index: 91.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0443
    Cell Significance Index: 0.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0413
    Cell Significance Index: 7.4500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0320
    Cell Significance Index: 43.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0071
    Cell Significance Index: -3.1300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0123
    Cell Significance Index: -8.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0244
    Cell Significance Index: -13.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0246
    Cell Significance Index: -18.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0312
    Cell Significance Index: -23.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0370
    Cell Significance Index: -20.8600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0383
    Cell Significance Index: -1.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0400
    Cell Significance Index: -24.9500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0456
    Cell Significance Index: -1.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0565
    Cell Significance Index: -8.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0596
    Cell Significance Index: -17.1400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0650
    Cell Significance Index: -3.0300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0670
    Cell Significance Index: -8.2400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0756
    Cell Significance Index: -10.3800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0758
    Cell Significance Index: -12.9400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0880
    Cell Significance Index: -10.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0905
    Cell Significance Index: -9.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1023
    Cell Significance Index: -12.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1118
    Cell Significance Index: -23.5500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1159
    Cell Significance Index: -1.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1338
    Cell Significance Index: -13.6700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1388
    Cell Significance Index: -17.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1416
    Cell Significance Index: -18.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1523
    Cell Significance Index: -17.4500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1681
    Cell Significance Index: -4.5100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1936
    Cell Significance Index: -4.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2096
    Cell Significance Index: -12.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2145
    Cell Significance Index: -11.2600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2165
    Cell Significance Index: -2.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2172
    Cell Significance Index: -15.3600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2244
    Cell Significance Index: -17.7700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2294
    Cell Significance Index: -3.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2429
    Cell Significance Index: -7.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2536
    Cell Significance Index: -18.9000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2592
    Cell Significance Index: -5.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2712
    Cell Significance Index: -14.0900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2900
    Cell Significance Index: -13.6300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3269
    Cell Significance Index: -17.0300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3407
    Cell Significance Index: -4.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3500
    Cell Significance Index: -11.4600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.3615
    Cell Significance Index: -6.2500
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.3640
    Cell Significance Index: -4.7200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3706
    Cell Significance Index: -7.4400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3727
    Cell Significance Index: -7.3700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3874
    Cell Significance Index: -7.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4042
    Cell Significance Index: -5.5200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4146
    Cell Significance Index: -6.1200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4152
    Cell Significance Index: -13.2300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.4469
    Cell Significance Index: -5.7300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4471
    Cell Significance Index: -5.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** EPM2A is a phosphatase enzyme that plays a pivotal role in the regulation of glycogen metabolism. It is specifically expressed in various cell types, including ciliary muscle cells, mural cells, and neurons. The EPM2A protein exhibits a unique ability to hydrolyze phosphoglucomutase, a key enzyme involved in glycogen synthesis. This enzyme activity is crucial for maintaining glycogen homeostasis and preventing the accumulation of glycogen in lysosomes, which can lead to cellular dysfunction and death. **Pathways and Functions:** EPM2A is involved in several key pathways, including: 1. **Glycogen Metabolism:** EPM2A regulates glycogen synthesis and breakdown by hydrolyzing phosphoglucomutase, a critical enzyme in the glycogen metabolism pathway. 2. **Negative Regulation of TOR Signaling:** EPM2A negatively regulates the mechanistic target of rapamycin (mTOR) signaling pathway, which is involved in cell growth, proliferation, and metabolism. 3. **Autophagy:** EPM2A promotes macroautophagy, a cellular process that involves the degradation and recycling of cellular components. 4. **Cell Signaling:** EPM2A interacts with various signaling molecules, including protein kinases and phosphatases, to regulate cellular responses to stress and injury. **Clinical Significance:** Mutations in EPM2A have been associated with Lafora disease, a rare and severe neurodegenerative disorder characterized by: 1. **Myoclonic Seizures:** Frequent and repetitive seizures that can be triggered by various stimuli. 2. **Progressive Brain Atrophy:** Gradual loss of brain tissue and cognitive decline. 3. **Glycogen Accumulation:** Accumulation of glycogen in various tissues, including the brain, liver, and muscles. Lafora disease is often diagnosed in infancy or early childhood, and its progression is typically rapid and fatal. The development of effective therapeutic strategies for Lafora disease remains a significant challenge, and further research on the molecular mechanisms of EPM2A is essential for understanding the underlying disease mechanisms and identifying potential therapeutic targets. In conclusion, EPM2A is a critical gene involved in the regulation of glycogen metabolism and negative regulation of TOR signaling. Its dysregulation has been associated with Lafora disease, a rare and severe neurodegenerative disorder. Further research on the molecular mechanisms of EPM2A is essential for understanding the underlying disease mechanisms and identifying potential therapeutic strategies for Lafora disease and other related disorders.

Genular Protein ID: 591886046

Symbol: EPM2A_HUMAN

Name: Lafora PTPase

UniProtKB Accession Codes:

O95278 B3KMU5 B4DRZ2 O95483 Q5T3F5 Q6IS15 Q8IU96 Q8IX24 Q8IX25 Q9BS66 Q9UEN2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 4 CDD 2 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DEPOD 1 DNASU 1 DisGeNET 1 DisProt 1 EC 3 EMBL 15 Ensembl 8 EvolutionaryTrace 1 ExpressionAtlas 1 GO 44 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 Pumba 1 Reactome 2 RefSeq 7 Rhea 9 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9771710

Title: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PubMed ID: 9771710

DOI: 10.1038/2470

PubMed ID: 11001928

Title: Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

PubMed ID: 11001928

DOI: 10.1093/oxfordjournals.hmg.a018916

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9931343

Title: A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

PubMed ID: 9931343

DOI: 10.1093/hmg/8.2.345

PubMed ID: 11220751

Title: Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.

PubMed ID: 11220751

DOI: 10.1002/1531-8249(20010201)49:2<271::aid-ana52>3.3.co;2-4

PubMed ID: 11883934

Title: Alternative splicing modulates subcellular localization of laforin.

PubMed ID: 11883934

DOI: 10.1006/bbrc.2002.6590

PubMed ID: 11739371

Title: A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen.

PubMed ID: 11739371

DOI: 10.1074/jbc.c100686200

PubMed ID: 12782127

Title: Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product.

PubMed ID: 12782127

DOI: 10.1016/s0888-7543(03)00094-6

PubMed ID: 12915448

Title: The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.

PubMed ID: 12915448

DOI: 10.1093/hmg/ddg253

PubMed ID: 14532330

Title: Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

PubMed ID: 14532330

DOI: 10.1093/hmg/ddg340

PubMed ID: 14706656

Title: The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

PubMed ID: 14706656

DOI: 10.1016/j.bbrc.2003.12.043

PubMed ID: 15102711

Title: Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.

PubMed ID: 15102711

DOI: 10.1093/hmg/ddh130

PubMed ID: 15930137

Title: Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

PubMed ID: 15930137

DOI: 10.1073/pnas.0503285102

PubMed ID: 16901901

Title: Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.

PubMed ID: 16901901

DOI: 10.1074/jbc.m606117200

PubMed ID: 16971387

Title: Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling.

PubMed ID: 16971387

DOI: 10.1074/jbc.m607778200

PubMed ID: 17908927

Title: A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.

PubMed ID: 17908927

DOI: 10.1101/gad.1553207

PubMed ID: 18617530

Title: Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.

PubMed ID: 18617530

DOI: 10.1093/hmg/ddn199

PubMed ID: 18070875

Title: Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).

PubMed ID: 18070875

DOI: 10.1074/jbc.m708712200

PubMed ID: 19036738

Title: The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.

PubMed ID: 19036738

DOI: 10.1093/hmg/ddn398

PubMed ID: 19542233

Title: Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

PubMed ID: 19542233

DOI: 10.1074/jbc.m109.009688

PubMed ID: 20453062

Title: Laforin, the most common protein mutated in Lafora disease, regulates autophagy.

PubMed ID: 20453062

DOI: 10.1093/hmg/ddq190

PubMed ID: 21728993

Title: Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase.

PubMed ID: 21728993

DOI: 10.1042/bj20110150

PubMed ID: 22961547

Title: Early-onset Lafora body disease.

PubMed ID: 22961547

DOI: 10.1093/brain/aws205

PubMed ID: 22036712

Title: Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.

PubMed ID: 22036712

DOI: 10.1016/j.ygeno.2011.10.001

PubMed ID: 23624058

Title: Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex.

PubMed ID: 23624058

DOI: 10.1016/j.biocel.2013.04.019

PubMed ID: 23922729

Title: Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329.

PubMed ID: 23922729

DOI: 10.1371/journal.pone.0069523

PubMed ID: 26231210

Title: Mechanistic insights into glucan phosphatase activity against polyglucan substrates.

PubMed ID: 26231210

DOI: 10.1074/jbc.m115.658203

PubMed ID: 25538239

Title: Dimeric quaternary structure of human laforin.

PubMed ID: 25538239

DOI: 10.1074/jbc.m114.627406

PubMed ID: 25544560

Title: Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

PubMed ID: 25544560

DOI: 10.1016/j.molcel.2014.11.020

PubMed ID: 11175283

Title: Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

PubMed ID: 11175283

DOI: 10.1038/sj.ejhg.5200571

PubMed ID: 11735300

Title: Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene.

PubMed ID: 11735300

DOI: 10.1006/mcpr.2001.0371

PubMed ID: 12019207

Title: Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

PubMed ID: 12019207

DOI: 10.1093/hmg/11.11.1263

PubMed ID: 12560877

Title: Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.

PubMed ID: 12560877

DOI: 10.1007/s100380300006

PubMed ID: 15009235

Title: A novel exon 1 mutation in a patient with atypical Lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

PubMed ID: 15009235

DOI: 10.1111/j.0013-9580.2004.33203.x

PubMed ID: 14722920

Title: Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

PubMed ID: 14722920

DOI: 10.1002/humu.10306

PubMed ID: 16021330

Title: Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

PubMed ID: 16021330

DOI: 10.1007/s10038-005-0263-7

PubMed ID: 18311786

Title: Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PubMed ID: 18311786

DOI: 10.1002/humu.20737

Sequence Information:

  • Length: 331
  • Mass: 37158
  • Checksum: DD79F917262AB458
  • Sequence:
    • MRFRFGVVVP PAVAGARPEL LVVGSRPELG RWEPRGAVRL RPAGTAAGDG ALALQEPGLW 
LGEVELAAEE AAQDGAEPGR VDTFWYKFLK REPGGELSWE GNGPHHDRCC TYNENNLVDG 
VYCLPIGHWI EATGHTNEMK HTTDFYFNIA GHQAMHYSRI LPNIWLGSCP RQVEHVTIKL 
KHELGITAVM NFQTEWDIVQ NSSGCNRYPE PMTPDTMIKL YREEGLAYIW MPTPDMSTEG 
RVQMLPQAVC LLHALLEKGH IVYVHCNAGV GRSTAAVCGW LQYVMGWNLR KVQYFLMAKR 
PAVYIDEEAL ARAQEDFFQK FGKVRSSVCS L

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.