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

2007-04-01 Affiliation

Identity

HGNC

PRKAG2

LOCATION

7q36.1

LOCUSID

51422

ALIAS

AAKG,AAKG2,CMH6,H91620p,WPWS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000106617	ENST00000287878	Q9UGJ0
ENSG00000106617	ENST00000287878	A0A090N8Q6
ENSG00000106617	ENST00000392801	Q9UGJ0
ENSG00000106617	ENST00000392801	A0A384MDZ2
ENSG00000106617	ENST00000418337	Q9UGJ0
ENSG00000106617	ENST00000476632	Q9UGJ0
ENSG00000106617	ENST00000478989	F8WDB5
ENSG00000106617	ENST00000488258	F8WDA1
ENSG00000106617	ENST00000492843	E9PGP6
ENSG00000106617	ENST00000493872	F8WAY3
ENSG00000106617	ENST00000650858	A0A494C068
ENSG00000106617	ENST00000651188	A0A494C0H7
ENSG00000106617	ENST00000651303	A0A494C094
ENSG00000106617	ENST00000651378	Q9UGJ0
ENSG00000106617	ENST00000651764	Q9UGJ0
ENSG00000106617	ENST00000651764	A0A384MDZ2
ENSG00000106617	ENST00000651836	A0A494C1R6
ENSG00000106617	ENST00000652047	A0A494C1K7
ENSG00000106617	ENST00000652159	Q9UGJ0
ENSG00000106617	ENST00000652159	A0A384MDZ2
ENSG00000106617	ENST00000652321	A0A494C155
ENSG00000106617	ENST00000652397	A0A494C026
ENSG00000106617	ENST00000652707	A0A494C188

Expression (GTEx)

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

Pathway	Source	External ID
Tight junction	KEGG	ko04530
Circadian rhythm	KEGG	ko04710
Insulin signaling pathway	KEGG	ko04910
Adipocytokine signaling pathway	KEGG	ko04920
Tight junction	KEGG	hsa04530
Circadian rhythm	KEGG	hsa04710
Insulin signaling pathway	KEGG	hsa04910
Adipocytokine signaling pathway	KEGG	hsa04920
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
FoxO signaling pathway	KEGG	hsa04068
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Mitochondrial biogenesis	REACTOME	R-HSA-1592230
Activation of PPARGC1A (PGC-1alpha) by phosphorylation	REACTOME	R-HSA-2151209
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
PI3K Cascade	REACTOME	R-HSA-109704
PKB-mediated events	REACTOME	R-HSA-109703
mTOR signalling	REACTOME	R-HSA-165159
Energy dependent regulation of mTOR by LKB1-AMPK	REACTOME	R-HSA-380972
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Metabolic Genes	REACTOME	R-HSA-5628897
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Translocation of GLUT4 to the plasma membrane	REACTOME	R-HSA-1445148
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrix	REACTOME	R-HSA-200425
Integration of energy metabolism	REACTOME	R-HSA-163685
AMPK inhibits chREBP transcriptional activation activity	REACTOME	R-HSA-163680
Cellular responses to stress	REACTOME	R-HSA-2262752
Macroautophagy	REACTOME	R-HSA-1632852
Insulin resistance	KEGG	hsa04931
Longevity regulating pathway	KEGG	hsa04211
Longevity regulating pathway - multiple species	KEGG	ko04213
Longevity regulating pathway - multiple species	KEGG	hsa04213
Regulation of TP53 Activity	REACTOME	R-HSA-5633007
Regulation of TP53 Activity through Phosphorylation	REACTOME	R-HSA-6804756
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA134983031	GPAM	Gene	Pathway	associated		22722338
PA142672073	CRTC2	Gene	Pathway	associated		22722338
PA162375571	ACTC1	Gene	DataAnnotation	associated
PA189	HMGCR	Gene	Pathway	associated		22722338
PA231	LMNA	Gene	DataAnnotation	associated
PA24421	ACACA	Gene	Pathway	associated		22722338
PA24422	ACACB	Gene	Pathway	associated		22722338
PA28707	GLA	Gene	DataAnnotation	associated
PA30861	MLYCD	Gene	Pathway	associated		22722338
PA31351	MYBPC3	Gene	DataAnnotation	associated
PA31374	MYH7	Gene	DataAnnotation	associated
PA31380	MYL2	Gene	DataAnnotation	associated
PA31381	MYL3	Gene	DataAnnotation	associated
PA335	SREBF1	Gene	Pathway	associated		22722338
PA35879	SLC2A4	Gene	Pathway	associated		22722338
PA36198	STK11	Gene	Pathway	associated		22722338
PA36636	TNNI3	Gene	DataAnnotation	associated
PA36638	TNNT2	Gene	DataAnnotation	associated
PA36690	TPM1	Gene	DataAnnotation	associated
PA37353	MLXIPL	Gene	Pathway	associated		22722338
PA37935	SIRT1	Gene	Pathway	associated		22722338
PA443632	Cardiomyopathy, Dilated	Disease	DataAnnotation	associated
PA443633	Cardiomyopathy, Hypertrophic	Disease	DataAnnotation	associated
PA444552	Hypertension	Disease	ClinicalAnnotation, Literature, MultilinkAnnotation	associated	PD	24560520, 31327267
PA449899	hydrochlorothiazide	Chemical	ClinicalAnnotation	associated	PD	31327267
PA450395	metformin	Chemical	Pathway	associated		22722338
PA61	ATM	Gene	Pathway	associated		22722338

References

Pubmed ID	Year	Title	Citations
38000657	2024	Overexpression of AMPKγ2 increases AMPK signaling to augment human T cell metabolism and function.	2
38000657	2024	Overexpression of AMPKγ2 increases AMPK signaling to augment human T cell metabolism and function.	2
37013823	2023	Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.	0
37932845	2023	Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG.	0
37013823	2023	Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.	0
37932845	2023	Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG.	0
34656342	2022	Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.	0
35588295	2022	Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.	1
35787834	2022	Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.	1
36221081	2022	Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.	1
34656342	2022	Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.	0
35588295	2022	Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.	1
35787834	2022	Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.	1
36221081	2022	Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.	1
34472622	2021	CARS 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/prkag2

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