Format

Send to:

Choose Destination

EPM2A EPM2A glucan phosphatase, laforin [ Homo sapiens (human) ]

Gene ID: 7957, updated on 11-Sep-2019

Summary

Official Symbol
EPM2Aprovided by HGNC
Official Full Name
EPM2A glucan phosphatase, laforinprovided by HGNC
Primary source
HGNC:HGNC:3413
See related
Ensembl:ENSG00000112425 MIM:607566
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EPM2; MELF
Summary
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]
Expression
Ubiquitous expression in heart (RPKM 6.9), kidney (RPKM 4.5) and 24 other tissues See more
Orthologs

Genomic context

See EPM2A in Genome Data Viewer
Location:
6q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (145382540..145736023, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (145946440..146057128, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene utrophin Neighboring gene small nucleolar RNA, H/ACA box 98 Neighboring gene tRNA-Gln (anticodon TTG) 4-1 Neighboring gene RNA, U1 small nuclear 33, pseudogene Neighboring gene zinc finger protein 131 pseudogene Neighboring gene uncharacterized LOC100507557 Neighboring gene uncharacterized LOC105378039 Neighboring gene F-box protein 30 Neighboring gene SNF2 histone linker PHD RING helicase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of carbohydrate metabolism, organism-specific biosystem (from REACTOME)
    Diseases of carbohydrate metabolism, organism-specific biosystemThe processes by which dietary carbohydrate is digested to monosaccharides and these are taken up from the gut lumen into cells where they are oxidized to yield energy or consumed in biosynthetic pro...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycogen synthesis, organism-specific biosystem (from REACTOME)
    Glycogen synthesis, organism-specific biosystemGlycogen, a highly branched glucose polymer, is formed and broken down in most human tissues, but is most abundant in liver and muscle, where it serves as a major stored fuel. Glycogen metabolism has...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
laforin
Names
EPM2A, laforin glucan phosphatase
LAFPTPase
epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
glucan phosphatase
glycogen phosphatase
lafora PTPase
NP_001018051.1
NP_001346986.1
NP_001346993.1
NP_001347000.1
NP_001355058.1
NP_001355059.1
NP_001355060.1
NP_001355061.1
NP_005661.1
XP_011534415.1
XP_011534418.1
XP_016866790.1
XP_016866791.1
XP_024302318.1
XP_024302319.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012832.2 RefSeqGene

    Range
    5336..115551
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018041.2NP_001018051.1  laforin isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment of the coding region compared to variant 1. The resulting isoform (b), also known as C-terISO, contains a shorter and distinct C-terminus compared to isoform a. Isoform b has been localized to the nucleus.
    Source sequence(s)
    AF284580, AF454491, AF454494, AJ130764, BC070047, BI463677
    Consensus CDS
    CCDS87454.1
    UniProtKB/Swiss-Prot
    O95278
    UniProtKB/TrEMBL
    H0Y6I8
    Related
    ENSP00000405913.2, ENST00000435470.2
    Conserved Domains (2) summary
    cd05806
    Location:1129
    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:158304
    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 ...
  2. NM_001360057.2NP_001346986.1  laforin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the coding region, resulting in a frameshift and an early start codon, compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF454491, AF454493, BC005286, BI599200
    Consensus CDS
    CCDS87453.1
    Related
    ENSP00000492876.1, ENST00000638262.1
    Conserved Domains (1) summary
    cd05806
    Location:1129
    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 ...
  3. NM_001360064.2NP_001346993.1  laforin isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform d, which has a shorter N-terminus, compared to isoform a. Variants 4 and 5 encode the same isoform (d).
    Source sequence(s)
    AF454491, AL023806, AL365193
    Consensus CDS
    CCDS87452.1
    Related
    ENSP00000492701.1, ENST00000639423.1
    Conserved Domains (1) summary
    cl21483
    Location:20166
    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 ...
  4. NM_001360071.2NP_001347000.1  laforin isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform d, which has a shorter N-terminus, compared to isoform a. Variants 4 and 5 encode the same isoform (d).
    Source sequence(s)
    AF454491, AF454493, BC005286, BI599200
    Consensus CDS
    CCDS87452.1
    Related
    ENSP00000498790.1, ENST00000650914.1
    Conserved Domains (1) summary
    cl21483
    Location:20166
    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 ...
  5. NM_001368129.2NP_001355058.1  laforin isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 10, encodes isoform e.
    Source sequence(s)
    AL023806, AL365193
  6. NM_001368130.1NP_001355059.1  laforin isoform f

    Status: REVIEWED

    Source sequence(s)
    AL023806, AL365193
  7. NM_001368131.1NP_001355060.1  laforin isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 4 and 5, encodes isoform d.
    Source sequence(s)
    AL023806, AL365193
  8. NM_001368132.1NP_001355061.1  laforin isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 6, encodes isoform e.
    Source sequence(s)
    AL023806, AL365193
  9. NM_005670.4NP_005661.1  laforin isoform a

    See identical proteins and their annotated locations for NP_005661.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a). Isoform a has been localized to the rough endoplasmic reticulum.
    Source sequence(s)
    AF284580, AF454494, BC005286
    Consensus CDS
    CCDS5206.1
    UniProtKB/Swiss-Prot
    O95278
    Related
    ENSP00000356489.3, ENST00000367519.9
    Conserved Domains (2) summary
    cd05806
    Location:1129
    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:158304
    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 ...

RNA

  1. NR_153398.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) includes an alternate 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AF454491, AL023806, BC005286, BE268120

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    145382540..145736023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446550.1XP_024302318.1  laforin isoform X1

    Conserved Domains (1) summary
    cd05806
    Location:1129
    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 ...
  2. XM_011536113.2XP_011534415.1  laforin isoform X2

    Conserved Domains (1) summary
    cd05806
    Location:1129
    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 ...
  3. XM_024446551.1XP_024302319.1  laforin isoform X3

    Conserved Domains (1) summary
    cl21483
    Location:20166
    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 ...
  4. XM_011536116.1XP_011534418.1  laforin isoform X3

    See identical proteins and their annotated locations for XP_011534418.1

    UniProtKB/Swiss-Prot
    O95278
    UniProtKB/TrEMBL
    H0UI04
    Related
    ENSP00000491353.1, ENST00000638778.1
    Conserved Domains (1) summary
    cl21483
    Location:20166
    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 ...
  5. XM_017011301.1XP_016866790.1  laforin isoform X4

    UniProtKB/Swiss-Prot
    O95278
  6. XM_017011302.1XP_016866791.1  laforin isoform X4

    UniProtKB/Swiss-Prot
    O95278
Support Center