GYS2 H446D [cytosol]

Stable Identifier
R-HSA-3858519
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
glycogen synthase 2 H446D, Glycogen (starch) synthase, liver H446D
Icon
GYS2 H446D [cytosol] icon
GYS2 H446D [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
9691087 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

Aynsley-Green, A, Orho, M, Gannon, MC, Nuttall, FQ, Blumel, P, Bosshard, NU, Groop, LC, Buist, NR, Gitzelmann, R

J Clin Invest 1998
External Reference Information
External Reference
UniProt:P54840 GYS2
Gene Names
GYS2
Chain
chain:1-703
Reference Genes
BioGPS Gene:2998 GYS2
COSMIC (genes):GYS2 GYS2
CTD Gene:2998 GYS2
dbSNP Gene:2998 GYS2
ENSEMBL:ENSG00000111713 GYS2
HGNC:4707 GYS2
KEGG:hsa:2998 GYS2
Monarch:2998 GYS2
NCBI Gene:2998 GYS2
OMIM:138571 GYS2
UCSC:P54840 GYS2
Reference Transcript
Other Identifiers
11725020_at
16762107
214621_PM_at
214621_at
2998
3446846
3446847
3446848
3446849
3446850
3446852
3446855
3446856
3446857
3446858
3446860
3446861
3446862
3446863
3446864
3446865
3446866
3446867
40682_at
7961673
A_23_P36621
A_33_P3360311
GE82630
GO:0003824
GO:0004373
GO:0005737
GO:0005829
GO:0005856
GO:0005938
GO:0005975
GO:0005978
GO:0006091
GO:0009749
GO:0016740
GO:0016757
GO:0030864
GO:0043226
GO:0061547
HMNXSV003030540
HMNXSV003031051
Hs.82614.0.S2_3p_at
ILMN_1807745
PH_hs_0004733
S70004_at
TC12001297.hg
TC12002789.hg
Participates
as a member of
Other forms of this molecule
GYS2 N39S [cytosol]
p-S-GYS2 [cytosol]
GYS2 [cytosol]
Modified Residues
Name
L-histidine 446 replaced with L-aspartic acid
Coordinate
446
PsiMod
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
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