PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)

2007-04-01  

Identity

HGNC
PRKAG2
LOCATION
7q36.1
LOCUSID
51422
ALIAS
AAKG,AAKG2,CMH6,H91620p,WPWS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51422
MIM: 602743
HGNC: 9386
Ensembl: ENSG00000106617

Variants:

dbSNP: 51422
ClinVar: 51422
TCGA: ENSG00000106617
COSMIC: PRKAG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106617ENST00000287878Q9UGJ0
ENSG00000106617ENST00000287878A0A090N8Q6
ENSG00000106617ENST00000392801Q9UGJ0
ENSG00000106617ENST00000392801A0A384MDZ2
ENSG00000106617ENST00000418337Q9UGJ0
ENSG00000106617ENST00000476632Q9UGJ0
ENSG00000106617ENST00000478989F8WDB5
ENSG00000106617ENST00000488258F8WDA1
ENSG00000106617ENST00000492843E9PGP6
ENSG00000106617ENST00000493872F8WAY3
ENSG00000106617ENST00000650858A0A494C068
ENSG00000106617ENST00000651188A0A494C0H7
ENSG00000106617ENST00000651303A0A494C094
ENSG00000106617ENST00000651378Q9UGJ0
ENSG00000106617ENST00000651764Q9UGJ0
ENSG00000106617ENST00000651764A0A384MDZ2
ENSG00000106617ENST00000651836A0A494C1R6
ENSG00000106617ENST00000652047A0A494C1K7
ENSG00000106617ENST00000652159Q9UGJ0
ENSG00000106617ENST00000652159A0A384MDZ2
ENSG00000106617ENST00000652321A0A494C155
ENSG00000106617ENST00000652397A0A494C026
ENSG00000106617ENST00000652707A0A494C188

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Tight junctionKEGGko04530
Circadian rhythmKEGGko04710
Insulin signaling pathwayKEGGko04910
Adipocytokine signaling pathwayKEGGko04920
Tight junctionKEGGhsa04530
Circadian rhythmKEGGhsa04710
Insulin signaling pathwayKEGGhsa04910
Adipocytokine signaling pathwayKEGGhsa04920
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
FoxO signaling pathwayKEGGhsa04068
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Activation of PPARGC1A (PGC-1alpha) by phosphorylationREACTOMER-HSA-2151209
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
PI3K CascadeREACTOMER-HSA-109704
PKB-mediated eventsREACTOMER-HSA-109703
mTOR signallingREACTOMER-HSA-165159
Energy dependent regulation of mTOR by LKB1-AMPKREACTOMER-HSA-380972
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrixREACTOMER-HSA-200425
Integration of energy metabolismREACTOMER-HSA-163685
AMPK inhibits chREBP transcriptional activation activityREACTOMER-HSA-163680
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852
Insulin resistanceKEGGhsa04931
Longevity regulating pathwayKEGGhsa04211
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756
Apelin signaling pathwayKEGGhsa04371

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134983031GPAMGenePathwayassociated22722338
PA142672073CRTC2GenePathwayassociated22722338
PA162375571ACTC1GeneDataAnnotationassociated
PA189HMGCRGenePathwayassociated22722338
PA231LMNAGeneDataAnnotationassociated
PA24421ACACAGenePathwayassociated22722338
PA24422ACACBGenePathwayassociated22722338
PA28707GLAGeneDataAnnotationassociated
PA30861MLYCDGenePathwayassociated22722338
PA31351MYBPC3GeneDataAnnotationassociated
PA31374MYH7GeneDataAnnotationassociated
PA31380MYL2GeneDataAnnotationassociated
PA31381MYL3GeneDataAnnotationassociated
PA335SREBF1GenePathwayassociated22722338
PA35879SLC2A4GenePathwayassociated22722338
PA36198STK11GenePathwayassociated22722338
PA36636TNNI3GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA36690TPM1GeneDataAnnotationassociated
PA37353MLXIPLGenePathwayassociated22722338
PA37935SIRT1GenePathwayassociated22722338
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated
PA444552HypertensionDiseaseClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD24560520, 31327267
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD31327267
PA450395metforminChemicalPathwayassociated22722338
PA61ATMGenePathwayassociated22722338

References

Pubmed IDYearTitleCitations
380006572024Overexpression of AMPKγ2 increases AMPK signaling to augment human T cell metabolism and function.2
380006572024Overexpression of AMPKγ2 increases AMPK signaling to augment human T cell metabolism and function.2
370138232023Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.0
379328452023Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG.0
370138232023Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.0
379328452023Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG.0
346563422022Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.0
355882952022Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.1
357878342022Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.1
362210812022Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.1
346563422022Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.0
355882952022Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.1
357878342022Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.1
362210812022Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.1
344726222021CARS senses cysteine deprivation to activate AMPK for cell survival.6

Citation

Dessen P

PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47132/gene-fusions/teaching-explorer/hgnc