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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51422

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	PRKAG2	NCBI