Entity Details

Primary name AAKG2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UGJ0
EntryNameAAKG2_HUMAN
FullName5'-AMP-activated protein kinase subunit gamma-2
TaxID9606
Evidenceevidence at protein level
Length569
SequenceStatuscomplete
DateCreated2001-06-01
DateModified2021-06-02

Ontological Relatives

GenesPRKAG2

GO terms

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GOName
GO:0004679 AMP-activated protein kinase activity
GO:0004862 cAMP-dependent protein kinase inhibitor activity
GO:0005524 ATP binding
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005977 glycogen metabolic process
GO:0006110 regulation of glycolytic process
GO:0006468 protein phosphorylation
GO:0006469 negative regulation of protein kinase activity
GO:0006633 fatty acid biosynthetic process
GO:0006754 ATP biosynthetic process
GO:0006853 carnitine shuttle
GO:0008603 cAMP-dependent protein kinase regulator activity
GO:0008607 phosphorylase kinase regulator activity
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0016126 sterol biosynthetic process
GO:0016208 AMP binding
GO:0016236 macroautophagy
GO:0016241 regulation of macroautophagy
GO:0019217 regulation of fatty acid metabolic process
GO:0019887 protein kinase regulator activity
GO:0019901 protein kinase binding
GO:0030295 protein kinase activator activity
GO:0031588 nucleotide-activated protein kinase complex
GO:0035556 intracellular signal transduction
GO:0042149 cellular response to glucose starvation
GO:0042304 regulation of fatty acid biosynthetic process
GO:0043531 ADP binding
GO:0045860 positive regulation of protein kinase activity
GO:0046320 regulation of fatty acid oxidation
GO:0046324 regulation of glucose import
GO:0050790 regulation of catalytic activity
GO:1901796 regulation of signal transduction by p53 class mediator

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000644 CBS domainDomainDomain
IPR039170 5'-AMP-activated protein kinase subunit gamma-2FamilyFamily

Diseases

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Disease IDSourceNameDescription
600858 OMIMCardiomyopathy, familial hypertrophic 6 (CMH6)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. The disease is caused by variants affecting the gene represented in this entry.
261740 OMIMGlycogen storage disease of heart lethal congenital (GSDH)Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. The disease is caused by variants affecting the gene represented in this entry.
194200 OMIMWolff-Parkinson-White syndrome (WPWS)A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00131 Adenosine phosphateDrugbanksmall molecule
DB00273 TopiramateDrugbanksmall molecule
DB00945 Acetylsalicylic acidDrugbanksmall molecule
DB12010 FostamatinibDrugbanksmall molecule