EPM2A T194I [cytosol]

Stable Identifier
R-HSA-3791361
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Laforin T194I
Icon
EPM2A T194I [cytosol] icon
EPM2A T194I [cytosol] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:O95278 EPM2A
Gene Names
EPM2A
Chain
chain:1-331
Reference Genes
BioGPS Gene:7957 EPM2A
COSMIC (genes):EPM2A EPM2A
CTD Gene:7957 EPM2A
dbSNP Gene:7957 EPM2A
ENSEMBL:ENSG00000112425 EPM2A
ENSEMBL_homo_sapiens_GENE:ENSG00000112425.16 EPM2A
KEGG Gene (Homo sapiens):7957 EPM2A
Monarch:7957 EPM2A
NCBI Gene:7957 EPM2A
OMIM:607566 EPM2A
UCSC:O95278 EPM2A
Reference Transcript
Other Identifiers
11726414_a_at
11742276_a_at
11757797_s_at
205231_3p_s_at
205231_PM_s_at
205231_s_at
210870_PM_s_at
210870_s_at
2977964
2977965
2977966
2977967
2977968
2977969
2977970
2977971
2977972
2977973
2977981
2977982
2977983
2977991
2977992
2977993
2977994
2977995
2977996
2978001
2978002
2978003
2978005
34249_at
72754_at
7957
8130013
A_23_P170600
A_24_P239419
GE55211
GO:0000045
GO:0001558
GO:0001932
GO:0003824
GO:0004373
GO:0004721
GO:0004722
GO:0004725
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005783
GO:0005789
GO:0005829
GO:0005844
GO:0005886
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0006470
GO:0006816
GO:0006886
GO:0006913
GO:0006914
GO:0007005
GO:0007399
GO:0008138
GO:0010468
GO:0010629
GO:0010923
GO:0014009
GO:0015813
GO:0016020
GO:0016055
GO:0016239
GO:0016311
GO:0016740
GO:0016787
GO:0016791
GO:0017018
GO:0019203
GO:0023052
GO:0030154
GO:0030163
GO:0030246
GO:0030247
GO:0030425
GO:0031396
GO:0033137
GO:0035305
GO:0035335
GO:0036211
GO:0042306
GO:0042325
GO:0042802
GO:0042803
GO:0043161
GO:0043170
GO:0043204
GO:0043226
GO:0043231
GO:0044042
GO:0045786
GO:0046835
GO:0046959
GO:0046983
GO:0048856
GO:0050877
GO:0055085
GO:0061136
GO:0072659
GO:0098554
GO:0098556
GO:0140096
GO:1903076
GO:2001069
GO:2001070
HMNXSV003013724
HMNXSV003032263
ILMN_1719468
ILMN_1788156
PH_hs_0026362
PH_hs_0033913
g11321612_3p_a_at
g11321612_3p_s_at
g13528989_3p_a_at
Participates
as a member of
Other forms of this molecule
EPM2A F84L [cytosol]
EPM2A P301L [cytosol]
K48polyUb-EPM2A [cytosol]
EPM2A [cytosol]
Modified Residues
Name
L-threonine 194 replaced with L-isoleucine
Coordinate
194
PsiMod
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
ZINC target
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (3)
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