GYS2 (glycogen synthase 2)

2021-06-01  

Identity

HGNC
GYS2
LOCATION
12p12.1
LOCUSID
2998
ALIAS
-

Other Information

Locus ID:

NCBI: 2998
MIM: 138571
HGNC: 4707
Ensembl: ENSG00000111713

Variants:

dbSNP: 2998
ClinVar: 2998
TCGA: ENSG00000111713
COSMIC: GYS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111713ENST00000261195P54840

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Insulin signaling pathwayKEGGko04910
Starch and sucrose metabolismKEGGhsa00500
Insulin signaling pathwayKEGGhsa04910
Metabolic pathwaysKEGGhsa01100
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
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
Insulin resistanceKEGGhsa04931
Glycogen storage disease type 0 (liver GYS2)REACTOMER-HSA-3858516
Glycogen storage disease type IV (GBE1)REACTOMER-HSA-3878781

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
127328442003A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.20
206914272010Genetic associations of brain structural networks in schizophrenia: a preliminary study.17
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
189961022009Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.11
229515952012Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition.6
282451892017The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.5
305840712019A GYS2/p53 Negative Feedback Loop Restricts Tumor Growth in HBV-Related Hepatocellular Carcinoma.5
206026152010Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?2
234268272012Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia.2

Citation

Dessen P

GYS2 (glycogen synthase 2)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58236/gys2