GSK3B

Gene Information
 
Gene Symbol
GSK3B
 
Aliases
-
 
Entrez Gene ID
 
Gene Name
Glycogen synthase kinase 3 beta
 
Chromosomal Location
3q13.33
 
HGNC ID
 
Summary
The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs6805251 ACTAATTAAACTAATAAAGTTCAAAT
A/C/G/T
ACTTTCTCAAGGTAGCATGTGCTGA 17270183
rs1719889 TATTCCTCTACCACTTGGCTAGATTA
A/T
GTGAGAATGGTAGCTTTGTAGGGAG Intron variant 17270183
rs1719895 ccaacacatgagctttgggggacata
C/T
tcaaatcatggcaCTGCTCTATTTA Intron variant 17270183
rs7624540 ctttggaaaatagtttggtaaccata
A/C
acttaccatatgatcagcaatttca Intron variant 17270183
rs2319398 attctatttatattaaatgtccagaa
G/T
agacagattgtggagacaaaaagat Intron variant 17270183

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001837 Biological process Epithelial to mesenchymal transition IMP 15448698
GO:0001954 Biological process Positive regulation of cell-matrix adhesion IMP 18156211
GO:0005977 Biological process Glycogen metabolic process IDA 8638126
GO:0006468 Biological process Protein phosphorylation IDA 11035810, 16315267, 20937854
GO:0006468 Biological process Protein phosphorylation IMP 16981698
Protein Information
 
Protein Name
Glycogen synthase kinase-3 beta, GSK-3 beta, GSK3beta isoform, serine/threonine-protein kinase GSK3B
 
Function
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00069 Pkinase
Pathways
 
KEGG
 
Reactome
 

EGFR tyrosine kinase inhibitor resistance
ErbB signaling pathway
Chemokine signaling pathway
Cell cycle
mTOR signaling pathway
PI3K-Akt signaling pathway
Wnt signaling pathway
Hedgehog signaling pathway
Axon guidance
Hippo signaling pathway
Focal adhesion
Signaling pathways regulating pluripotency of stem cells
IL-17 signaling pathway
T cell receptor signaling pathway
B cell receptor signaling pathway
Neurotrophin signaling pathway
Dopaminergic synapse
Insulin signaling pathway
Melanogenesis
Prolactin signaling pathway
Thyroid hormone signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease (NAFLD)
Cushing syndrome
Alzheimer disease
Yersinia infection
Hepatitis C
Measles
Human cytomegalovirus infection
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Colorectal cancer
Endometrial cancer
Prostate cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

 

Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
Regulation of HSF1-mediated heat shock response
CRMPs in Sema3A signaling
Disassembly of the destruction complex and recruitment of AXIN to the membrane
B-WICH complex positively regulates rRNA expression
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
GLI3 is processed to GLI3R by the proteasome
Constitutive Signaling by AKT1 E17K in Cancer

Interactions
 
STRING MINT IntAct
ENSP00000330341 O14543 O14543
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Myocardial Failure
Myocardial Infarction
Hypertensive disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Multiple congenital anomalies
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
AKT2 
 
rs3730051, rs8100018, rs11671439, rs2304188 
NIH criteria 
Related 
287 white women with PCOS, 187 white controls 
These data suggest that polymorphisms in two components of the insulin signaling pathway, AKT2 and GSK3B, are associated withPCOS. 

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