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 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 3
Date created February 23, 2021

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 0
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
00000184 6 EPM2A, laforin glucan phosphatase, transcript variant 1 NM_005670.3 NP_005661.1 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
00000188 6 EPM2A, laforin glucan phosphatase, transcript variant X3 XM_011536116.1 XP_011534418.1 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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