Gene: EPM2A ENSG00000112425

Description

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) [Source:HGNC Symbol;Acc:3413]

Gene Synonyms

EPM2, LD, LDE, MELF

Location

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	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5206	H0UI04 O95278	NM_005670.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000435470.1	EPM2A-004	1037	237aa	ENSP00000405913.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000450221.1	EPM2A-001	736	170aa	ENSP00000414900.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000496228.1	EPM2A-005	781	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461700.1	EPM2A-003	555	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000489412.1	EPM2A-006	497	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary