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Gene Symbol |
GSK3B |
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Aliases |
- |
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Entrez Gene ID |
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Gene Name |
Glycogen synthase kinase 3 beta |
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Chromosomal Location |
3q13.33 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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SNPs
SNP Id |
Upstream Sequence |
SNP |
Downstream Sequence |
Functional Significance |
References |
rs6805251 |
ACTAATTAAACTAATAAAGTTCAAAT |
A/C/G/T |
ACTTTCTCAAGGTAGCATGTGCTGA |
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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 | |
rs7620750 |
TTGAGAATCACCATGTTCAAGCATAG |
A/G |
CTTGGCTACTGAGTGAGAAATACTG |
Intron variant |
17270183 | |
rs1381841 |
CTTGGGCATATGTTTTATAGAAATAG |
A/G |
AATTTACGTTCACATTAAAACCGGC |
Intron variant |
17270183 | |
rs6770314 |
CACCTTCCTGAAACAAATTGTGACCC |
A/G |
CGTAGGCAATATGCCCCATTATTTA |
Intron variant |
17270183 | |
rs2199503 |
GCATAGCCTTTTGGGTGAGGAAGTTG |
A/G |
ACTAAGATTTCAGAGCTCTCTTGCT |
Intron variant |
17270183 | |
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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 |
GO:0006468 |
Biological process |
Protein phosphorylation |
TAS |
26049140 |
GO:0006983 |
Biological process |
ER overload response |
IDA |
14744935 |
GO:0007212 |
Biological process |
Dopamine receptor signaling pathway |
NAS |
21711983 |
GO:0010822 |
Biological process |
Positive regulation of mitochondrion organization |
IMP |
25118933 |
GO:0018105 |
Biological process |
Peptidyl-serine phosphorylation |
IDA |
8638126, 11104755, 11955436, 14744935, 17139249 |
GO:0018107 |
Biological process |
Peptidyl-threonine phosphorylation |
IDA |
11955436, 17139249, 25897075 |
GO:0021766 |
Biological process |
Hippocampus development |
IMP |
19581563 |
GO:0030010 |
Biological process |
Establishment of cell polarity |
TAS |
18268107 |
GO:0030011 |
Biological process |
Maintenance of cell polarity |
TAS |
18268107 |
GO:0031175 |
Biological process |
Neuron projection development |
IDA |
19830702 |
GO:0031333 |
Biological process |
Negative regulation of protein complex assembly |
IMP |
16188939 |
GO:0031334 |
Biological process |
Positive regulation of protein complex assembly |
IDA |
8638126 |
GO:0032091 |
Biological process |
Negative regulation of protein binding |
IDA |
16890161 |
GO:0032436 |
Biological process |
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
IC |
11955436 |
GO:0032436 |
Biological process |
Positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
IMP |
25897075 |
GO:0032515 |
Biological process |
Negative regulation of phosphoprotein phosphatase activity |
TAS |
28386764 |
GO:0032886 |
Biological process |
Regulation of microtubule-based process |
IMP |
20937854 |
GO:0035556 |
Biological process |
Intracellular signal transduction |
IDA |
14749367 |
GO:0035556 |
Biological process |
Intracellular signal transduction |
TAS |
26049140 |
GO:0043066 |
Biological process |
Negative regulation of apoptotic process |
IDA |
14744935 |
GO:0043547 |
Biological process |
Positive regulation of GTPase activity |
IMP |
18156211 |
GO:0045719 |
Biological process |
Negative regulation of glycogen biosynthetic process |
TAS |
19366350 |
GO:0045732 |
Biological process |
Positive regulation of protein catabolic process |
IC |
16188939 |
GO:0046777 |
Biological process |
Protein autophosphorylation |
IDA |
23184662 |
GO:0046827 |
Biological process |
Positive regulation of protein export from nucleus |
IDA |
14744935 |
GO:0060079 |
Biological process |
Excitatory postsynaptic potential |
NAS |
21711983 |
GO:0070885 |
Biological process |
Negative regulation of calcineurin-NFAT signaling cascade |
IMP |
9072970 |
GO:0071109 |
Biological process |
Superior temporal gyrus development |
IMP |
19581563 |
GO:0090090 |
Biological process |
Negative regulation of canonical Wnt signaling pathway |
IC |
9601641, 11955436 |
GO:0090090 |
Biological process |
Negative regulation of canonical Wnt signaling pathway |
TAS |
19366350 |
GO:1901215 |
Biological process |
Negative regulation of neuron death |
IDA |
19830702 |
GO:1901216 |
Biological process |
Positive regulation of neuron death |
IDA |
18508033 |
GO:1904339 |
Biological process |
Negative regulation of dopaminergic neuron differentiation |
TAS |
24431302 |
GO:1904781 |
Biological process |
Positive regulation of protein localization to centrosome |
IMP |
17139249 |
GO:2000077 |
Biological process |
Negative regulation of type B pancreatic cell development |
TAS |
19366350 |
GO:2000300 |
Biological process |
Regulation of synaptic vesicle exocytosis |
EXP |
17989287 |
GO:2000300 |
Biological process |
Regulation of synaptic vesicle exocytosis |
IDA |
17989287 |
GO:2000466 |
Biological process |
Negative regulation of glycogen (starch) synthase activity |
TAS |
19366350 |
GO:0005634 |
Cellular component |
Nucleus |
IDA |
14744935, 15448698 |
GO:0005737 |
Cellular component |
Cytoplasm |
IDA |
14744935, 15448698, 18787224, 19038973, 20937854 |
GO:0005813 |
Cellular component |
Centrosome |
IDA |
17139249, 21399614 |
GO:0005886 |
Cellular component |
Plasma membrane |
IDA |
20937854 |
GO:0030877 |
Cellular component |
Beta-catenin destruction complex |
IDA |
8638126, 9601641, 16188939 |
GO:0030877 |
Cellular component |
Beta-catenin destruction complex |
TAS |
11955436, 19366350 |
GO:0098978 |
Cellular component |
Glutamatergic synapse |
EXP |
17989287 |
GO:0098978 |
Cellular component |
Glutamatergic synapse |
IDA |
17989287 |
GO:1990909 |
Cellular component |
Wnt signalosome |
TAS |
24115276 |
GO:0001085 |
Molecular function |
RNA polymerase II transcription factor binding |
IPI |
20864106 |
GO:0002020 |
Molecular function |
Protease binding |
IPI |
25118933 |
GO:0002039 |
Molecular function |
P53 binding |
IDA |
14744935 |
GO:0004672 |
Molecular function |
Protein kinase activity |
IMP |
16981698 |
GO:0004672 |
Molecular function |
Protein kinase activity |
TAS |
22988876, 24115276, 26049140 |
GO:0004674 |
Molecular function |
Protein serine/threonine kinase activity |
IDA |
8638126, 9072970, 11035810, 11104755, 11955436, 14744935, 16315267, 17139249, 18348280 |
GO:0004674 |
Molecular function |
Protein serine/threonine kinase activity |
IMP |
16981698 |
GO:0004674 |
Molecular function |
Protein serine/threonine kinase activity |
NAS |
8725894, 28386764 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
8638126, 9482734, 9601641, 9731200, 10481074, 11004522, 11035810, 11738041, 12421363, 12434148, 12927815, 14744935, 15147888, 15448698, 15752768, 16282323, 16365045, 16890161, 16981698, 17078951, 17139249, 17317006, 17318191, 17510365, 17601533, 18045539, 18505846, 18687691, 1913197 |
GO:0008013 |
Molecular function |
Beta-catenin binding |
IPI |
8638126 |
GO:0016301 |
Molecular function |
Kinase activity |
IDA |
15448698, 24391509 |
GO:0019901 |
Molecular function |
Protein kinase binding |
IPI |
18348280 |
GO:0031625 |
Molecular function |
Ubiquitin protein ligase binding |
IPI |
21118991 |
GO:0034236 |
Molecular function |
Protein kinase A catalytic subunit binding |
IPI |
11035810 |
GO:0034452 |
Molecular function |
Dynactin binding |
IPI |
17139249 |
GO:0048156 |
Molecular function |
Tau protein binding |
NAS |
28386764 |
GO:0050321 |
Molecular function |
Tau-protein kinase activity |
IDA |
14690523, 16365045 |
GO:0050321 |
Molecular function |
Tau-protein kinase activity |
NAS |
28386764 |
GO:0051059 |
Molecular function |
NF-kappaB binding |
IPI |
15465828 |
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Protein Information |
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Protein Name |
Glycogen synthase kinase-3 beta, GSK-3 beta, GSK3beta isoform, serine/threonine-protein kinase GSK3B |
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Function |
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UniProt |
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PDB |
3CQU, 3CQW, 3MV5, 3OW4, 3QKK, 4EKK, 6BUU, 6NPZ, 1O6K, 1O6L, 2JDO, 2JDR, 2UW9, 2X39, 2XH5, 3E87, 3E88, 3E8D, 1O9U, 3ZDI, 4B7T, 4NM0, 4NM3, 4NM5, 4NM7, 1GNG, 3ZRK, 3ZRL, 3ZRM, 4AFJ, 5OY4, 1H8F, 1I09, 1J1B, 1J1C, 1PYX, 1Q3D, 1Q3W, 1Q41, 1Q4L, 1Q5K, 1R0E, 1UV5, 2JLD, 2O5K, 2OW3, 3DU8, 3F7Z, 3F88, 3GB2, 3I4B, |
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Pfam |
Pfam Accession |
Pfam ID |
PF00069 |
Pkinase |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000330341 |
O14543 |
O14543 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Heart Failure |
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Myocardial Failure |
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Myocardial Infarction |
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Hypertensive disease |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Multiple congenital anomalies |
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Digestive System Diseases |
Peritonitis |
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Endocrine System Diseases |
Neuronal ceroid lipofuscinosis |
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PCOS |
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Neoplasms |
Lymphoma |
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Prostate cancer |
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Vulvar Cancer |
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Nervous System Diseases |
Tauopathies |
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Nutritional and Metabolic Diseases |
Gluocose Intolerance |
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Psychiatric/Brain disorders |
Mental Depression |
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Bipolar Disorder |
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Schizophrenia |
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Alzheimer Disease |
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Manic Disorder |
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Senile Dementia |
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Mood Disorders |
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Cognition Disorders |
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Melancholia |
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Renal Disorder |
Kidney Failure |
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Kidney Insufficiency |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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AKT2 |
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rs3730051, rs8100018, rs11671439, rs2304188 |
NIH criteria |
Related
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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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