GYG2 (glycogenin 2)

2014-11-01  

Identity

HGNC
LOCATION
Xp22.33
LOCUSID
ALIAS
GN-2,GN2
FUSION GENES

Other Information

Locus ID:

NCBI: 8908
MIM: 300198
HGNC: 4700
Ensembl: ENSG00000056998

Variants:

dbSNP: 8908
ClinVar: 8908
TCGA: ENSG00000056998
COSMIC: GYG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000056998ENST00000353656O15488
ENSG00000056998ENST00000381157J3QSZ3
ENSG00000056998ENST00000381163O15488
ENSG00000056998ENST00000398806O15488
ENSG00000056998ENST00000520904E5RIC9
ENSG00000056998ENST00000639373A0A1W2PQ75

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Diseases of carbohydrate metabolismREACTOMER-HSA-5663084
Glycogen storage diseasesREACTOMER-HSA-3229121
Myoclonic epilepsy of LaforaREACTOMER-HSA-3785653
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Lysosomal glycogen catabolismREACTOMER-HSA-5357572
Glycogen storage disease type 0 (liver GYS2)REACTOMER-HSA-3858516
Glycogen storage disease type II (GAA)REACTOMER-HSA-5357609
Glycogen storage disease type IV (GBE1)REACTOMER-HSA-3878781

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
257511062015Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release.4
242398742014LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.3
284536642017Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.2

Citation

Dessen P

GYG2 (glycogenin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64134/gyg2