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epm2a EPM2A glucan phosphatase, laforin [ Scleropages formosus (Asian bonytongue) ]

Gene ID: 108920470, updated on 14-Mar-2024

Summary

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Gene symbol
epm2a
Gene description
EPM2A glucan phosphatase, laforin
See related
Ensembl:ENSSFOG00015027817
Gene type
protein coding
RefSeq status
MODEL
Organism
Scleropages formosus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Osteoglossocephala; Osteoglossomorpha; Osteoglossiformes; Osteoglossidae; Scleropages
Orthologs
human zebrafish all
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Genomic context

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Location:
chromosome: 1
Exon count:
7
Annotation release Status Assembly Chr Location
101 current fSclFor1.1 (GCF_900964775.1) 1 NC_041806.1 (49908557..49915886)
100 previous assembly ASM162426v1 (GCF_001624265.1) Unplaced Scaffold NW_017371523.1 (1447482..1454944)

Chromosome 1 - NC_041806.1Genomic Context describing neighboring genes Neighboring gene glutamate receptor, metabotropic 1a Neighboring gene F-box only protein 30-like Neighboring gene utrophin Neighboring gene transfer RNA leucine (anticodon UAA)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables carbohydrate phosphatase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables protein tyrosine/serine/threonine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables starch binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
laforin
Names
EPM2A, laforin glucan phosphatase
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Scleropages formosus Annotation Release 101 details...Open this link in a new tab

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

Reference fSclFor1.1 Primary Assembly

Genomic

  1. NC_041806.1 Reference fSclFor1.1 Primary Assembly

    Range
    49908557..49915886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_029253612.1 → XP_029109445.1  laforin isoform X2

    UniProtKB/TrEMBL
    A0A0P7WA66, A0A8C9WPY1
    Conserved Domains (2) summary
    cd05806
    Location:3 → 112
    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 ...
    cd14526
    Location:138 → 296
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

  2. XM_029253596.1 → XP_029109429.1  laforin isoform X2

    UniProtKB/TrEMBL
    A0A0P7WA66, A0A8C9WPY1
    Conserved Domains (2) summary
    cd05806
    Location:3 → 112
    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 ...
    cd14526
    Location:138 → 296
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

  3. XM_029253604.1 → XP_029109437.1  laforin isoform X2

    UniProtKB/TrEMBL
    A0A0P7WA66, A0A8C9WPY1
    Related
    ENSSFOP00015078283.1, ENSSFOT00015050172.1
    Conserved Domains (2) summary
    cd05806
    Location:3 → 112
    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 ...
    cd14526
    Location:138 → 296
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

  4. XM_029253606.1 → XP_029109439.1  laforin isoform X2

    UniProtKB/TrEMBL
    A0A0P7WA66, A0A8C9WPY1
    Conserved Domains (2) summary
    cd05806
    Location:3 → 112
    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 ...
    cd14526
    Location:138 → 296
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

  5. XM_029253608.1 → XP_029109441.1  laforin isoform X2

    UniProtKB/TrEMBL
    A0A0P7WA66, A0A8C9WPY1
    Conserved Domains (2) summary
    cd05806
    Location:3 → 112
    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 ...
    cd14526
    Location:138 → 296
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

  6. XM_029253613.1 → XP_029109446.1  laforin isoform X3

    Conserved Domains (2) summary
    cl15347
    Location:1 → 13
    CBM20; The family 20 carbohydrate-binding module (CBM20), also known as the starch-binding domain, is found in a large number of starch degrading enzymes including alpha-amylase, beta-amylase, glucoamylase, and CGTase (cyclodextrin glucanotransferase). CBM20 is ...
    cd14526
    Location:39 → 197
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains

  7. XM_029253595.1 → XP_029109428.1  laforin isoform X1

    Conserved Domains (2) summary
    cl15347
    Location:86 → 114
    CBM20; The family 20 carbohydrate-binding module (CBM20), also known as the starch-binding domain, is found in a large number of starch degrading enzymes including alpha-amylase, beta-amylase, glucoamylase, and CGTase (cyclodextrin glucanotransferase). CBM20 is ...
    cd14526
    Location:140 → 298
    DSP_laforin-like; dual specificity phosphatase domain of laforin and similar domains
Nucleotide Protein
Heading Accession and Version

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