Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. EPM2A, epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Sequence ID:NM_001018041
NM_005670
RefSeqGene ID:NG_012832
Entrez Gene ID:7957
Ensembl ID:ENSG00000112425

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA)NHLRC1

Cytogenetic Location (from UniGene)

Cytogenetic Location:6q24Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:6: 145946440 - 146056634

 Exon Info From UCSC:
NM_001018041
NM_005670

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5287405Full LengthBC070047epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_005661  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_001018041 NP_001018051      
NM_005670 NP_005661 O95278 EC 3.1.3.16
EC 3.1.3.48
DSPc

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
AF084535 AAC83347 O95278 EC 3.1.3.16
EC 3.1.3.48
AF284580 AAG18377 O95278 EC 3.1.3.16
EC 3.1.3.48
BC005286 AAH05286 O95278 EC 3.1.3.16
EC 3.1.3.48
BC070047 AAH70047 O95278 EC 3.1.3.16
EC 3.1.3.48
AF454491 AAO15523 O95278 EC 3.1.3.16
EC 3.1.3.48
AF454492 AAO15524 O95278 EC 3.1.3.16
EC 3.1.3.48
AF454493 AAO15525 O95278 EC 3.1.3.16
EC 3.1.3.48
AF454494 AAO15526 O95278 EC 3.1.3.16
EC 3.1.3.48
AK022721 BAG51107 O95278 EC 3.1.3.16
EC 3.1.3.48
AK299497 BAG61454 O95278 EC 3.1.3.16
EC 3.1.3.48
AJ130763 CAA10199 O95278 EC 3.1.3.16
EC 3.1.3.48
AJ130764 CAA10200 O95278 EC 3.1.3.16
EC 3.1.3.48

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens EPM2A NP_005661 M.musculus Epm2a 13853 Gene Info NP_034276 90

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)