InnateDB Protein
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IDBP-244911.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PRKAG2
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Protein Name
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protein kinase, AMP-activated, gamma 2 non-catalytic subunit
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000376549
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InnateDB Gene
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IDBG-49672 (PRKAG2)
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Protein Structure
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Function |
AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive. {ECO:0000269PubMed:14722619}.
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Subcellular Localization |
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Disease Associations |
Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]: A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. {ECO:0000269PubMed:11407343, ECO:0000269PubMed:11748095}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen- containing cytosolic vacuoles within cardiomyocytes. {ECO:0000269PubMed:11371514, ECO:0000269PubMed:11827995}. Note=The disease is caused by mutations affecting the gene represented in this entry.Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]: Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. {ECO:0000269PubMed:15877279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
21
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000644
CBS domain
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PFAM |
PF00571
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PRINTS |
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PIRSF |
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SMART |
SM00116
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UGJ0
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PhosphoSite |
PhosphoSite-Q9UGJ0
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TrEMBL |
C9JUG1
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UniProt Splice Variant |
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Entrez Gene |
51422
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UniGene |
Hs.649300
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RefSeq |
NP_001035723
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HUGO |
HGNC:9386
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OMIM |
602743
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CCDS |
CCDS43683
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HPRD |
04119
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IMGT |
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EMBL |
AB025580
AC006358
AC006966
AC074257
AC093583
AF087875
AJ249976
AK001887
BC020540
BC068598
BT007127
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GenPept |
AAF03528
AAH20540
AAH68598
AAK00413
AAP35791
AAS02032
BAA84695
BAA91962
CAB65116
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