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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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