The EPM2A gene homepage

General information
Gene symbol EPM2A
Gene name EPM2A glucan phosphatase, laforin
Chromosome 6
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_012832.2
Transcript reference NM_001018041.1, NM_001360057.1, NM_001360064.1, NM_001360071.1, NM_005670.3, NR_153397.1, NR_153398.1, XM_011536113.2, XM_011536116.1, XM_017011301.1, XM_017011302.1, XM_024446551.1
Associated with diseases LD
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Date created February 23, 2021
Date last updated August 01, 2021
Version EPM2A:210801

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 3413
Entrez Gene 7957
PubMed articles EPM2A
OMIM - Gene 607566
OMIM - Diseases LD (Lafora disease)
HGMD EPM2A
GeneCards EPM2A
GeneTests EPM2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000180 6 EPM2A, laforin glucan phosphatase, transcript variant 2 NM_001018041.1 NP_001018051.1 1
00000184 6 EPM2A, laforin glucan phosphatase, transcript variant 1 NM_005670.3 NP_005661.1 1
00000188 6 EPM2A, laforin glucan phosphatase, transcript variant X3 XM_011536116.1 XP_011534418.1 1
00000181 6 EPM2A, laforin glucan phosphatase, transcript variant 3 NM_001360057.1 NP_001346986.1 0
00000182 6 EPM2A, laforin glucan phosphatase, transcript variant 4 NM_001360064.1 NP_001346993.1 0
00000183 6 EPM2A, laforin glucan phosphatase, transcript variant 5 NM_001360071.1 NP_001347000.1 0
00000185 6 EPM2A, laforin glucan phosphatase, transcript variant 6 NR_153397.1 - 0
00000186 6 EPM2A, laforin glucan phosphatase, transcript variant 7 NR_153398.1 - 0
00000187 6 EPM2A, laforin glucan phosphatase, transcript variant X2 XM_011536113.2 XP_011534415.1 0
00000189 6 EPM2A, laforin glucan phosphatase, transcript variant X5 XM_017011301.1 XP_016866790.1 0
00000190 6 EPM2A, laforin glucan phosphatase, transcript variant X6 XM_017011302.1 XP_016866791.1 0
00000191 6 EPM2A, laforin glucan phosphatase, transcript variant X4 XM_024446551.1 XP_024302319.1 0


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