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Aliases for EPM2A Gene

Aliases for EPM2A Gene

  • EPM2A, Laforin Glucan Phosphatase 2 3 5
  • Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin) 2 3
  • Epilepsy, Progressive Myoclonus Type 2, Lafora Disease (Laforin) 2 3
  • Glycogen Phosphatase 3 4
  • Glucan Phosphatase 3 4
  • Lafora PTPase 3 4
  • LAFPTPase 3 4
  • EC 3.1.3.16 4
  • EC 3.1.3.48 4
  • EC 3.1.3.- 4
  • Laforin 3
  • EPM2 3
  • MELF 3

External Ids for EPM2A Gene

Previous GeneCards Identifiers for EPM2A Gene

  • GC06M145569
  • GC06M145794
  • GC06M145927
  • GC06M145988
  • GC06M145822
  • GC06M143510
  • GC06M145501

Summaries for EPM2A Gene

Entrez Gene Summary for EPM2A Gene

  • This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

GeneCards Summary for EPM2A Gene

EPM2A (EPM2A, Laforin Glucan Phosphatase) is a Protein Coding gene. Diseases associated with EPM2A include Myoclonic Epilepsy Of Lafora and Myoclonic Epilepsy Of Unverricht And Lundborg. Among its related pathways are Diseases of carbohydrate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and protein tyrosine phosphatase activity.

UniProtKB/Swiss-Prot for EPM2A Gene

  • 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 (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). 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 (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062).

  • Isoform 2: does not bind to glycogen (PubMed:18617530). Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 (PubMed:18617530, PubMed:22036712).

  • Isoform 7: has phosphatase activity (in vitro).

Additional gene information for EPM2A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPM2A Gene

Genomics for EPM2A Gene

GeneHancer (GH) Regulatory Elements for EPM2A Gene

Promoters and enhancers for EPM2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J145733 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 657.4 +0.7 705 4 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC LOC100507557 EPM2A ENSG00000270638 ENSG00000270828 SHPRH
GH06J145705 Enhancer 0.6 Ensembl ENCODE 12.7 +30.5 30502 0.4 JUN GABPB1 GABPA EPM2A LOC100507557 GC06P145589
GH06J145863 Enhancer 0.9 Ensembl ENCODE 6.8 -129.6 -129601 4.6 HDGF PKNOX1 IRF2 EBF1 ATF7 IKZF2 RUNX3 CREM SRF ZNF687 LOC100507557 EPM2A GC06P145856 GC06P145874 SHPRH
GH06J145482 Enhancer 0.6 ENCODE 8.2 +252.8 252826 2 SMARCE1 TEAD1 JUN SP1 MAFF ZNF316 JUND FOS FOSL2 MAFK LOC100507557 EPM2A SHPRH LOC645749 RNU1-33P GC06M145464
GH06J145818 Enhancer 0.2 ENCODE 6.2 -82.7 -82707 0.2 EPM2A FBXO30 GC06P145825 LOC100507557
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPM2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPM2A gene promoter:
  • FOXO1a
  • FOXO1
  • AP-4
  • HFH-3
  • FOXI1
  • c-Myb
  • c-Myc
  • Max
  • MEF-2A

Genomic Locations for EPM2A Gene

Genomic Locations for EPM2A Gene
chr6:145,382,535-145,736,303
(GRCh38/hg38)
Size:
353,769 bases
Orientation:
Minus strand
chr6:145,822,719-146,057,160
(GRCh37/hg19)
Size:
234,442 bases
Orientation:
Minus strand

Genomic View for EPM2A Gene

Genes around EPM2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPM2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPM2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPM2A Gene

Proteins for EPM2A Gene

  • Protein details for EPM2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B3EWF7-EP2A2_HUMAN
    Recommended name:
    Laforin, isoform 9
    Protein Accession:
    B3EWF7

    Protein attributes for EPM2A Gene

    Size:
    344 amino acids
    Molecular mass:
    35169 Da
    Quaternary structure:
    • Interacts with isoform 1 and isoform 2.

    Alternative splice isoforms for EPM2A Gene

  • Protein details for EPM2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95278-EPM2A_HUMAN
    Recommended name:
    Laforin
    Protein Accession:
    O95278
    Secondary Accessions:
    • B3KMU5
    • B4DRZ2
    • O95483
    • Q5T3F5
    • Q6IS15
    • Q8IU96
    • Q8IX24
    • Q8IX25
    • Q9BS66
    • Q9UEN2

    Protein attributes for EPM2A Gene

    Size:
    331 amino acids
    Molecular mass:
    37158 Da
    Quaternary structure:
    • Homodimer (PubMed:16971387, PubMed:18617530, PubMed:23922729, PubMed:25538239, PubMed:25544560). Interacts with itself (PubMed:14532330). Interacts with PPP1R3B, PPP1R3C, PPP1R3D, HIRIP5, and EPM2AIP1 (PubMed:12782127, PubMed:12915448, PubMed:14532330, PubMed:16901901, PubMed:18070875). Binds glycogen and Lafora bodies (PubMed:11739371, PubMed:14532330, PubMed:14706656, PubMed:15102711, PubMed:18617530, PubMed:22036712). Interacts with NHLRC1/malin (via the NHL repeats) (PubMed:15930137, PubMed:22036712, PubMed:23922729). Forms a complex with NHLRC1/malin and HSP70 (PubMed:19036738). Interacts with PPP1R3D; in the presence of NHLC1/malin the interaction leads to ubiquitination and autophagic degradation of PPP1R3D. Interacts (via the phosphatase domain) with MAPT/Tau; the interaction dephosphorylates MAPT (PubMed:19542233). Isoform 1 and isoform 2 interact to form a heterodimeric complex that lacks phosphatase activity (in vitro) (PubMed:18617530). Active phosphatase isoform 7 and isoform 1 interact with each other, but give rise to lower phosphatase activity than isoform 1 or isoform 7 by themselves (in vitro) (PubMed:22036712). Active phosphatase isoform 7 and inactive isoform 2 interact with each other, but give rise to lower phosphatase activity than isoform 7 by itself (in vitro) (PubMed:22036712). Interacts with PRDM8 (PubMed:22961547).
    SequenceCaution:
    • Sequence=AAO15523.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAG51107.1; Type=Frameshift; Positions=223; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPM2A Gene

    Alternative splice isoforms for EPM2A Gene

neXtProt entry for EPM2A Gene

Post-translational modifications for EPM2A Gene

  • Polyubiquitinated by NHLRC1/malin.
  • Phosphorylation on Ser-25 by AMPK affects the phosphatase activity of the enzyme and its ability to homodimerize and interact with NHLRC1, PPP1R3C or PRKAA2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EPM2A Gene

Domains & Families for EPM2A Gene

Gene Families for EPM2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O95278

UniProtKB/Swiss-Prot:

EPM2A_HUMAN :
  • The CBM20 domain mediates binding to cytoplasmic glycogen and to Lafora polyglucosan bodies.
  • Belongs to the protein-tyrosine phosphatase family.
Domain:
  • The CBM20 domain mediates binding to cytoplasmic glycogen and to Lafora polyglucosan bodies.
Family:
  • Belongs to the protein-tyrosine phosphatase family.
genes like me logo Genes that share domains with EPM2A: view

Function for EPM2A Gene

Molecular function for EPM2A Gene

UniProtKB/Swiss-Prot Function:
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 (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). 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 (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062).
UniProtKB/Swiss-Prot Function:
Isoform 2: does not bind to glycogen (PubMed:18617530). Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 (PubMed:18617530, PubMed:22036712).
UniProtKB/Swiss-Prot Function:
Isoform 7: has phosphatase activity (in vitro).
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
GENATLAS Biochemistry:
laforin,tyrosine phosphatase with two alternative C terminini,putatively governing the localization of the protein either in cytoplasmic membrane or in the nucleus

Enzyme Numbers (IUBMB) for EPM2A Gene

Phenotypes From GWAS Catalog for EPM2A Gene

Gene Ontology (GO) - Molecular Function for EPM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity IDA --
GO:0004725 protein tyrosine phosphatase activity IMP --
GO:0005515 protein binding IPI 24837458
GO:0008138 protein tyrosine/serine/threonine phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with EPM2A: view
genes like me logo Genes that share phenotypes with EPM2A: view

Human Phenotype Ontology for EPM2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPM2A Gene

MGI Knock Outs for EPM2A:

Animal Model Products

miRNA for EPM2A Gene

miRTarBase miRNAs that target EPM2A

Clone Products

  • Addgene plasmids for EPM2A

No data available for Transcription Factor Targets and HOMER Transcription for EPM2A Gene

Localization for EPM2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPM2A Gene

Nucleus.
Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus. {ECO:0000269 PubMed:17908927}.
Isoform 1: Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane. Note=Colocalizes with glycogen synthase in punctate structures in the cytoplasm (PubMed:11739371, PubMed:14532330). Primarily associated with polyribosomes at the rough endoplasmic reticulum, and also detected at the plasma membrane (PubMed:11001928, PubMed:11220751, PubMed:11883934, PubMed:18311786). {ECO:0000269 PubMed:11001928, ECO:0000269 PubMed:11220751, ECO:0000269 PubMed:11739371, ECO:0000269 PubMed:11883934, ECO:0000269 PubMed:14532330, ECO:0000269 PubMed:18311786}.
Isoform 2: Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane. Nucleus. Note=Also found in the nucleus. {ECO:0000269 PubMed:11883934, ECO:0000269 PubMed:18617530}.
Isoform 4: Cytoplasm. Nucleus.
Isoform 5: Cytoplasm. Nucleus.
Isoform 7: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPM2A gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 3
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with EPM2A: view

Pathways & Interactions for EPM2A Gene

genes like me logo Genes that share pathways with EPM2A: view

Pathways by source for EPM2A Gene

Gene Ontology (GO) - Biological Process for EPM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process NAS --
GO:0005978 glycogen biosynthetic process TAS --
GO:0006470 protein dephosphorylation IDA --
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with EPM2A: view

No data available for SIGNOR curated interactions for EPM2A Gene

Drugs & Compounds for EPM2A Gene

(12) Drugs for EPM2A Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlorpromazine Approved, Investigational, Vet_approved Pharma Antagonist, Inverse agonist, Channel blocker 19
Clozapine Approved Pharma Antagonist, Positive, Allosteric regulator, Full agonist, Agonist, Inverse agonist Antipsychotic medication 121
Haloperidol Approved Pharma Antagonist, Pore Blocker Antipsychotic drug 155
Olanzapine Approved, Investigational Pharma Antagonist, Full agonist, Agonist, Inverse agonist 408
Quetiapine Approved Pharma Antagonist, Full agonist, Agonist 0

(5) Additional Compounds for EPM2A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with EPM2A: view

Transcripts for EPM2A Gene

mRNA/cDNA for EPM2A Gene

Unigene Clusters for EPM2A Gene

Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin):
Representative Sequences:

Clone Products

  • Addgene plasmids for EPM2A

Alternative Splicing Database (ASD) splice patterns (SP) for EPM2A Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b
SP1: -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: - - - - - - -
SP6: - - -
SP7:

Relevant External Links for EPM2A Gene

GeneLoc Exon Structure for
EPM2A
ECgene alternative splicing isoforms for
EPM2A

Expression for EPM2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPM2A Gene

mRNA differential expression in normal tissues according to GTEx for EPM2A Gene

This gene is overexpressed in Muscle - Skeletal (x6.9).

Protein differential expression in normal tissues from HIPED for EPM2A Gene

This gene is overexpressed in Pancreatic juice (11.3), Heart (11.2), Spinal cord (9.3), and Fetal Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPM2A Gene



Protein tissue co-expression partners for EPM2A Gene

NURSA nuclear receptor signaling pathways regulating expression of EPM2A Gene:

EPM2A

SOURCE GeneReport for Unigene cluster for EPM2A Gene:

Hs.486696

mRNA Expression by UniProt/SwissProt for EPM2A Gene:

B3EWF7-EP2A2_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the placenta.

Evidence on tissue expression from TISSUES for EPM2A Gene

  • Nervous system(4.5)
  • Kidney(4.2)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPM2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Abdomen:
  • liver
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with EPM2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for EPM2A Gene

Orthologs for EPM2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPM2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPM2A 34 33
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPM2A 34 33
  • 91.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPM2A 34 33
  • 91.44 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPM2A 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epm2a 16 34 33
  • 86.77 (n)
rat
(Rattus norvegicus)
Mammalia Epm2a 33
  • 86.51 (n)
oppossum
(Monodelphis domestica)
Mammalia EPM2A 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPM2A 34 33
  • 75.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPM2A 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epm2a 33
  • 68.48 (n)
zebrafish
(Danio rerio)
Actinopterygii epm2a 34 33
  • 67.97 (n)
OneToOne
Species where no ortholog for EPM2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPM2A Gene

ENSEMBL:
Gene Tree for EPM2A (if available)
TreeFam:
Gene Tree for EPM2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPM2A: view image

Paralogs for EPM2A Gene

No data available for Paralogs for EPM2A Gene

Variants for EPM2A Gene

Sequence variations from dbSNP and Humsavar for EPM2A Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs104893950 pathogenic, Lafora disease, not provided 145,627,691(-) G/A coding_sequence_variant, intron_variant, missense_variant, stop_gained
rs104893955 pathogenic, likely-pathogenic, Lafora disease, not provided, Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] 145,735,405(-) A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1060503233 uncertain-significance, Progressive myoclonic epilepsy 145,735,432(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs137852915 pathogenic, Lafora disease, Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] 145,686,276(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs137852916 pathogenic, uncertain-significance, Lafora disease, Progressive myoclonic epilepsy, Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] 145,635,451(-) C/T coding_sequence_variant, intron_variant, missense_variant

Variation tolerance for EPM2A Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.39; 42.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPM2A Gene

Human Gene Mutation Database (HGMD)
EPM2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPM2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EPM2A Gene

Disorders for EPM2A Gene

MalaCards: The human disease database

(11) MalaCards diseases for EPM2A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EPM2A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPM2A_HUMAN
  • Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]: An autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum. {ECO:0000269 PubMed:11001928, ECO:0000269 PubMed:11175283, ECO:0000269 PubMed:11739371, ECO:0000269 PubMed:12019207, ECO:0000269 PubMed:12560877, ECO:0000269 PubMed:14532330, ECO:0000269 PubMed:14706656, ECO:0000269 PubMed:14722920, ECO:0000269 PubMed:15009235, ECO:0000269 PubMed:18311786, ECO:0000269 PubMed:25544560, ECO:0000269 PubMed:26231210, ECO:0000269 PubMed:9771710, ECO:0000269 PubMed:9931343}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EPM2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for EPM2A Gene

Publications for EPM2A Gene

  1. The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system. (PMID: 19036738) Garyali P … Ganesh S (Human molecular genetics 2009) 3 4 22 58
  2. Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG). (PMID: 18070875) Worby CA … Dixon JE (The Journal of biological chemistry 2008) 3 4 22 58
  3. Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. (PMID: 18311786) Singh S … Ganesh S (Human mutation 2008) 3 4 22 58
  4. Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy. (PMID: 18617530) Dubey D … Ganesh S (Human molecular genetics 2008) 3 4 22 58
  5. Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates. (PMID: 16901901) Worby CA … Dixon JE (The Journal of biological chemistry 2006) 3 4 22 58

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Sources for EPM2A Gene

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