PRKAG2 - protein kinase AMP-activated non-catalytic subunit gamma 2 Gene

Homo sapiens

Also known as AAKG; CMH6; WPWS; AAKG2; H91620p

Gene ID: 51422 | Gene type: protein coding

About PRKAG2

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,556,127-151,877,115 (from NCBI)

This gene has 35 transcripts (splice variants), 222 orthologues, 2 paralogues and is associated with 7 phenotypes. Ubiquitous expression in heart (RPKM 15.2), prostate (RPKM 4.8) and 24 other tissues.

Summary

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing Enzyme that monitors cellular energy status and functions by inactivating key Enzymes involved in regulating de novo biosynthesis of fatty acid and Cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

PRKAG2 Products(25)

mRNA	Protein	Name
NM_001040633.2	NP_001035723.1	5'-AMP-activated protein kinase subunit gamma-2 isoform c
NM_001304527.2	NP_001291456.1	5'-AMP-activated protein kinase subunit gamma-2 isoform d
NM_001304531.2	NP_001291460.1	5'-AMP-activated protein kinase subunit gamma-2 isoform b
NM_001363698.2	NP_001350627.1	5'-AMP-activated protein kinase subunit gamma-2 isoform e
NM_001407021.1	NP_001393950.1	5'-AMP-activated protein kinase subunit gamma-2 isoform f
NM_001407022.1	NP_001393951.1	5'-AMP-activated protein kinase subunit gamma-2 isoform g
NM_001407023.1	NP_001393952.1	5'-AMP-activated protein kinase subunit gamma-2 isoform h
NM_001407024.1	NP_001393953.1	5'-AMP-activated protein kinase subunit gamma-2 isoform c
NM_001407026.1	NP_001393955.1	5'-AMP-activated protein kinase subunit gamma-2 isoform i
NM_001407027.1	NP_001393956.1	5'-AMP-activated protein kinase subunit gamma-2 isoform i
NM_001407028.1	NP_001393957.1	5'-AMP-activated protein kinase subunit gamma-2 isoform j
NM_001407029.1	NP_001393958.1	5'-AMP-activated protein kinase subunit gamma-2 isoform k
NM_001407030.1	NP_001393959.1	5'-AMP-activated protein kinase subunit gamma-2 isoform l
NM_001407031.1	NP_001393960.1	5'-AMP-activated protein kinase subunit gamma-2 isoform m
NM_001407032.1	NP_001393961.1	5'-AMP-activated protein kinase subunit gamma-2 isoform n
NM_001407033.1	NP_001393962.1	5'-AMP-activated protein kinase subunit gamma-2 isoform o
NM_001407034.1	NP_001393963.1	5'-AMP-activated protein kinase subunit gamma-2 isoform p
NM_001407035.1	NP_001393964.1	5'-AMP-activated protein kinase subunit gamma-2 isoform p
NM_001407036.1	NP_001393965.1	5'-AMP-activated protein kinase subunit gamma-2 isoform q
NM_001407037.1	NP_001393966.1	5'-AMP-activated protein kinase subunit gamma-2 isoform r
NM_001407038.1	NP_001393967.1	5'-AMP-activated protein kinase subunit gamma-2 isoform s
NM_001407039.1	NP_001393968.1	5'-AMP-activated protein kinase subunit gamma-2 isoform t
NM_001407040.1	NP_001393969.1	5'-AMP-activated protein kinase subunit gamma-2 isoform t
NM_016203.4	NP_057287.2	5'-AMP-activated protein kinase subunit gamma-2 isoform a
NM_024429.2	NP_077747.1	5'-AMP-activated protein kinase subunit gamma-2 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ADP binding	IDA IDA: Inferred from direct assay	15877279	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	15877279	GOA
enables cAMP-dependent protein kinase inhibitor activity	IDA IDA: Inferred from direct assay	17255938	GOA
enables cAMP-dependent protein kinase regulator activity	IMP IMP: Inferred from mutant phenotype	15877279	GOA
enables phosphorylase kinase regulator activity	IMP IMP: Inferred from mutant phenotype	15877279	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables protein kinase activator activity	IMP IMP: Inferred from mutant phenotype	15877279	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	10698692	GOA
enables protein kinase regulator activity	IDA IDA: Inferred from direct assay	24563466	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycogen metabolic process	IMP IMP: Inferred from mutant phenotype	11827995	GOA
involved in intracellular signal transduction	IMP IMP: Inferred from mutant phenotype	15877279	GOA
involved in negative regulation of protein kinase activity	IDA IDA: Inferred from direct assay	17255938	GOA
involved in positive regulation of peptidyl-threonine phosphorylation	IMP IMP: Inferred from mutant phenotype	15877279	GOA
involved in positive regulation of protein kinase activity	IMP IMP: Inferred from mutant phenotype	15877279	GOA
involved in regulation of fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	15877279	GOA
involved in regulation of glycolytic process	IMP IMP: Inferred from mutant phenotype	15877279	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of nucleotide-activated protein kinase complex	IDA IDA: Inferred from direct assay	15877279	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRKAG2 Protein Structure

CBS

0
100
200
300
400
500
569 a.a.

Protein Preferred Names

Protein Names

5'-AMP-activated protein kinase subunit gamma-2

AMPK subunit gamma-2

PRKAG2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PRKAG2	Q9UGJ0	COL25A1	Homo sapiens	Q8NE08	Validated Y2H	32814053
Intra	PRKAG2	Q9UGJ0	COL25A1	Homo sapiens	Q8NE08	Y2H Array	32814053
Intra	PRKAG2	Q9UGJ0	COL25A1	Homo sapiens	Q8NE08	Y2H Pooling	32814053
Intra	PRKAG2	Q9UGJ0	SQSTM1	Homo sapiens	Q13501	Validated Y2H	32814053
Intra	PRKAG2	Q9UGJ0	SQSTM1	Homo sapiens	Q13501	Y2H Pooling	32814053
Intra	PRKAG2	Q9UGJ0	SQSTM1	Homo sapiens	Q13501	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Glycogen Storage Disease Of Heart, Lethal Congenital

Lethal Congenital Glycogen Storage Disease Of Heart	Phosphorylase Kinase Deficiency Of Heart
Fatal Congenital Hypertrophic Cardiomyopathy Due To Glycogenosis	Fatal Congenital Hypertrophic Cardiomyopathy Due To Gsd
Fatal Congenital Hypertrophic Cardiomyopathy Due To Glycogen Storage Disease	Glycogen Storage Disease Of Heart
Fatal Congenital Nonlysosomal Cardiac Glycogenosis	Lethal Congenital Glycogen Storage Disease Of The Heart
Glycogen Storage Disease Of Heart Lethal Congenital	GSDH
Congenital Nonlysosomal Cardiac Glycogenosis	Storage Disease, Glycogen, Type Of Heart, Lethal Congenital
Fatal Congenital Nonlysosomal Heart Glycogenosis

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern	Wpw Syndrome
Anomalous Atrioventricular Excitation	Anomalous A-V Excitation
Ventricular Pre-Excitation With Arrhythmia	WPWS
Ventricular Familial Preexcitation Syndrome	Preexcitation Syndrome
Ventricular Preexcitation	Wpw - [Wolff-Parkinson- White] Syndrome
Pre-Excitation Syndrome

Cardiomyopathy, Familial Hypertrophic, 6

Hypertrophic Cardiomyopathy 6	CMH6
Familial Hypertrophic Cardiomyopathy With Wolff-Parkinson-White Syndrome	Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Hypertrophic 6	Cardiomyopathy, Hypertrophic, Familial, Type 6

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Danon Disease

Pseudoglycogenosis Ii	Antopol Disease
Glycogen Storage Disease Iib	Glycogen Storage Disease Type 2b
Glycogen Storage Disease Type Iib	Gsd2b
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency	Vacuolar Cardiomyopathy And Myopathy X-Linked
Vacuolar Cardiomyopathy And Myopathy, X-Linked	Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
Gsd2b, Formerly	Gsd Iib, Formerly
Glycogen Storage Cardiomyopathy	Glycogen Storage Disease Limited To The Heart
Pseudoglycogenosis 2	X-Linked Vacuolar Cardiomyopathy And Myopathy
Lysosomal Glycogen Storage Disease With Normal Acid Maltase	Glycogen Storage Disease Due To Lamp-2 Deficiency
Gsd Due To Lamp-2 Deficiency	Glycogenosis Due To Lamp-2 Deficiency
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity	DAND
Gsd-Iib

Glycogen Storage Disease Ii

Pompe Disease	Glycogen Storage Disease Type Ii
Acid Maltase Deficiency	Gsd Ii
Gaa Deficiency	Alpha-1,4-Glucosidase Deficiency
Glycogenosis Type Ii	GSD2
Acid Alpha-Glucosidase Deficiency	Amd
Glycogen Storage Disease, Type Ii	Pompe'S Disease
Glycogen Storage Disease Type 2	Cardiomegalia Glycogenica Diffusa
Acid Maltase Deficiency Disease	Deficiency Of Alpha-Glucosidase
Glycogenosis, Generalized, Cardiac Form	Deficiency Of Glucoamylase
Deficiency Of Maltase	Generalized Glycogenosis
Glycogenosis, Type 2	Lysosomal Alpha-1,4-Glucosidase Deficiency
Glucosidase Acid-1,4-Alpha Deficiency	Aglucosidase Alfa
Deficiency Of Lysosomal Alpha-Glucosidase	Glycogen Storage Disease Due To Acid Maltase Deficiency
Alpha-1,4-Glucosidase Acid Deficiency	Gsd Due To Acid Maltase Deficiency
Gsd Type 2	Gsd Type Ii
Glycogenosis Due To Acid Maltase Deficiency	Glycogenosis Type 2
Glycogen Storage Disease 2	Cardiomegalia Glycogenica
Glycogenosis Generalized Cardiac Form	Glycogenosis Ii
Gsd-Ii	Storage Disease, Glycogen, Type Ii
Generalized Glycogen Storage Disease Of Infants	Cardiac Form Of Generalized Glycogenosis

Fabry Disease

Alpha-Galactosidase A Deficiency	Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum	Ceramide Trihexosidase Deficiency
Fabry Disease, Cardiac Variant	Fabry'S Disease
Hereditary Dystopic Lipidosis	Gla Deficiency
FD	Alpha Galactosidase Deficiency
Deficiency Of Melibiase	Angiokeratoma, Diffuse
Angiokeratoma Diffuse	Diffuse Angiokeratoma

Mitochondrial Dna Depletion Syndrome 12b

Atrial Standstill 1

ATRST1	Atrial Cardiomyopathy With Heart Block
Cardiomyopathy, Familial, With Conduction Disturbance	Atrial Standstill, Digenic
Familial Cardiomyopathy With Conduction Disturbance	Standstill, Atrial, Type 1
Heart Block	Cardiomyopathies
Idiopathic Cardiomyopathy	Idiopathic Cardiopathy
Primary Myocardial Disease	Primary Cardiomyopathy
Myocardiopathy	Myocardosis
Primary Idiopathic Myocardial Disease

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4	CMH4
Cardiomyopathy, Hypertrophic, 4	Cardiomyopathy, Familial Hypertrophic 4
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To	Cardiomyopathy, Hypertrophic, Familial, Type 4

Osteopetrosis, Autosomal Recessive 6

OPTB6	Autosomal Recessive Osteopetrosis 6
Autosomal Recessive Osteopetrosis Intermediate Form	Osteopetrosis, Autosomal Recessive, Intermediate Form
Osteopetrosis Autosomal Recessive 6	Autosomal Recessive Osteopetrosis Type 6
Osteopetrosis Autosomal Recessive Intermediate Form	Intermediate Osteopetrosis
Autosomal Recessive Intermediate Osteopetrosis	Osteopetrosis, Autosomal Recessive, Type 6

Glycogen Storage Disease Iii

Glycogen Storage Disease Type Iii	Forbes Disease
Cori Disease	Glycogen Storage Disease Iiia
Amylo-1,6-Glucosidase Deficiency	Glycogen Storage Disease Iiib
Limit Dextrinosis	GSD3
Agl Deficiency	Glycogen Debrancher Deficiency
Gde Deficiency	Glycogen Storage Disease Iiic
Debrancher Deficiency	Glycogen Storage Disease Type 3
Glycogenosis Type Iii	Glycogen Storage Disease Iiid
Amylo 1,6 Glucosidase Deficiency	Deficiency Of Debranching Enzyme
Deficiency Of Dextrin	Glycogen Storage Disease, Type Iii
Glycogen Debranching Enzyme Deficiency	Cori'S Disease
Gsd Iii	Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Cori-Forbes Disease	Gsd Due To Glycogen Debranching Enzyme Deficiency
Gsd Type 3	Gsdiii
Glycogenosis Due To Glycogen Debranching Enzyme Deficiency	Glycogenosis Type 3
Glycogen Storage Disease 3	Glycogen Debranching Enzyme Deficiency
Gsd-Iii	Gsd Iiia
Gsd Iiib	Gsd Iiic
Gsd Iiid	Storage Disease, Glycogen, Type Iii

Mast Syndrome

SPG21	Spastic Paraplegia 21, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia Type 21	Autosomal Recessive Spastic Paraplegia 21
Hereditary Spastic Paraplegia 21

Third-Degree Atrioventricular Block

Third Degree Atrioventricular Block	Complete Atrioventricular Block
Complete Av Block	Third-Degree Block
Complete Atrioventricular Heart Block	Complete Heart Block
Third Degree Atrioventricular Heart Block	Third Degree Heart Block
Complete Heart Block Nos	Chb - [Complete Heart Block]
Idioventricular Rhythm	Av - [Atrioventricular] Block, Complete

Angiokeratoma

Angiokeratoma Of Skin	Cutaneous Angiokeratoma
Skin Angiokeratoma

Ebstein Anomaly

Ebstein'S Anomaly	Ebstein'S Anomaly Of Common Atrioventricular Valve
Ebstein'S Anomaly Of Right Atrioventricular Valve	Ebstein'S Anomaly Of Tricuspid Valve
Ebstein'S Malformation	Ebstein Malformation Of The Tricuspid Valve
Ebstein Anomaly Of The Tricuspid Valve	Ebstein Disease
Accessory Tricuspid Valve Tissue	Congenital Ebstein Deformity Of Tricuspid Valve
Ebstein Syndrome	Ebstein Cardiopathy
Ebstein Anomaly Of Tricuspid Valve

Atrioventricular Block

Av Block

Skin Hemangioma

Angioma Of The Skin	Angiomatous Naevus Of Skin
Hemangioma Of Skin

Sphingolipidosis

Sphingolipidoses

Intrinsic Cardiomyopathy

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11110	PRKAG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PRKAG2	VGNC	VGNC:81745
Canis familiaris	PRKAG2	VGNC	VGNC:44973
Bos taurus	PRKAG2	VGNC	VGNC:55749
Felis catus	PRKAG2	VGNC	VGNC:80662
Mus musculus	PRKAG2	MGD	MGI:1336153
Rattus norvegicus	PRKAG2	RGD	RGD:727782