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Epm2a EPM2A glucan phosphatase, laforin [ Dipodomys ordii (Ord's kangaroo rat) ]

Gene ID: 105993631, updated on 13-Mar-2024

Summary

Gene symbol
Epm2a
Gene description
EPM2A glucan phosphatase, laforin
See related
Ensembl:ENSDORG00000000626
Gene type
protein coding
RefSeq status
MODEL
Organism
Dipodomys ordii
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Castorimorpha; Heteromyidae; Dipodomyinae; Dipodomys
Orthologs
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Genomic context

Location:
chromosome: Un
Exon count:
4
Annotation release Status Assembly Chr Location
100 current Dord_2.0 (GCF_000151885.1) Unplaced Scaffold NW_012267314.1 (7797227..7832628)

NW_012267314.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105993679 Neighboring gene F-box protein 30 Neighboring gene utrophin Neighboring gene transfer RNA leucine (anticodon UAA)

Genomic regions, transcripts, and products

Genomic Sequence:
NW_012267314.1 Unplaced Scaffold Reference Dord_2.0

General gene information

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 
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

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: Dipodomys ordii Annotation Release 100 details...Open this link in a new tab

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

Reference Dord_2.0

Genomic

  1. NW_012267314.1 Reference Dord_2.0

    Range
    7797227..7832628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_013026943.1XP_012882397.1  laforin

    UniProtKB/TrEMBL
    A0A1S3G2W3
    Related
    ENSDORP00000000582.1, ENSDORT00000000625.2
    Conserved Domains (2) summary
    cl15347
    Location:634
    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 ...
    cl21483
    Location:63208
    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 ...