Description
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) [Source:HGNC Symbol;Acc:3413]
Gene Synonyms
EPM2, LD, LDE, MELF
Location
Chromosome 6: 145,822,719-146,057,160 reverse strand.
GRCh37:CM000668.1
About this gene
This gene has 6 transcripts (splice variants) and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000367519.3 | EPM2A-002 | 3633 | 331aa | ENSP00000356489.3 | Protein coding | CCDS5206 | H0UI04 O95278 | NM_005670.3 | Ensembl Canonical, GENCODE basic, |
ENST00000435470.1 | EPM2A-004 | 1037 | 237aa | ENSP00000405913.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000450221.1 | EPM2A-001 | 736 | 170aa | ENSP00000414900.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000496228.1 | EPM2A-005 | 781 | No protein | - | Processed transcript | - | - | - | |
ENST00000461700.1 | EPM2A-003 | 555 | No protein | - | Processed transcript | - | - | - | |
ENST00000489412.1 | EPM2A-006 | 497 | No protein | - | Processed transcript | - | - | - |