Gene Symbol Report 
EPM2A
| Approved Symbol |
EPM2A |
|---|---|
| Approved Name |
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) |
| HGNC ID |
HGNC:3413 |
| Previous Symbols & Names |
"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)" |
| Synonyms |
LD, LDE |
| Locus Type |
gene with protein product |
| Chromosomal Location |
6q24 |
| GENE FAMILY |
Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases |
|
|---|---|---|
| HOMOLOGS |
MGI:1341085 D Mouse Symbol: Epm2a RGD:71047 D Rat Symbol: Epm2a HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:AF284580 EMBL-Bank DDBJ C RefSeq:NM_005670 D CCDS:CCDS5206.1 C Vega:OTTHUMG00000015747 C |
|
| GENE RESOURCES |
Entrez Gene:7957 C Ensembl:ENSG00000112425 C UCSC:uc003qkw.3 D Vega:OTTHUMG00000015747 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:B3EWF7 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
