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

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

中文名称:蛋白激酶 AMP 激活的非催化亚基 γ 2

种属: Homo sapiens

同用名: AAKG; CMH6; WPWS; AAKG2; H91620p

基因 ID: 51422 | 基因类型: protein coding

关于 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.

功能概要

AMP 活化蛋白激酶 (AMPK) 是一种异源三聚体蛋白,由一个催化性 α 亚基、一个非催化性 β 亚基和一个非催化性调节性 γ 亚基组成。这些亚基中的每一个都存在各种形式,由不同的基因编码。 AMPK 是一种重要的能量感应酶,它通过使参与调节脂肪酸和胆固醇从头生物合成的关键酶失活来监测细胞能量状态和功能。该基因是 AMPK 伽马亚基家族的成员。该基因的突变与 Wolff-Parkinson-White 综合征、家族性肥厚性心肌病和心脏糖原贮积病有关。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供,2015 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ADP binding IDA
IDA: 通过直接分析推断
15877279 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
15877279 GOA
enables cAMP-dependent protein kinase inhibitor activity IDA
IDA: 通过直接分析推断
17255938 GOA
enables cAMP-dependent protein kinase regulator activity IMP
IMP: 通过突变表型推断
15877279 GOA
enables phosphorylase kinase regulator activity IMP
IMP: 通过突变表型推断
15877279 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
enables protein kinase activator activity IMP
IMP: 通过突变表型推断
15877279 GOA
enables protein kinase binding IDA
IDA: 通过直接分析推断
10698692 GOA
enables protein kinase regulator activity IDA
IDA: 通过直接分析推断
24563466 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycogen metabolic process IMP
IMP: 通过突变表型推断
11827995 GOA
involved in intracellular signal transduction IMP
IMP: 通过突变表型推断
15877279 GOA
involved in negative regulation of protein kinase activity IDA
IDA: 通过直接分析推断
17255938 GOA
involved in positive regulation of peptidyl-threonine phosphorylation IMP
IMP: 通过突变表型推断
15877279 GOA
involved in positive regulation of protein kinase activity IMP
IMP: 通过突变表型推断
15877279 GOA
involved in regulation of fatty acid metabolic process IMP
IMP: 通过突变表型推断
15877279 GOA
involved in regulation of glycolytic process IMP
IMP: 通过突变表型推断
15877279 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of nucleotide-activated protein kinase complex IDA
IDA: 通过直接分析推断
15877279 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PRKAG2 蛋白结构

CBS

CBS: CBS domain (360 - 408)

CBS

CBS: CBS domain (435 - 480)

CBS

CBS: CBS domain (508 - 554)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 569 a.a.
蛋白主名 其他名称

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

AMPK subunit gamma-2

PRKAG2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PRKAG2 Q9UGJ0 COL25A1 Homo sapiens Q8NE08 32814053
种属内
PRKAG2 Q9UGJ0 COL25A1 Homo sapiens Q8NE08 32814053
种属内
PRKAG2 Q9UGJ0 COL25A1 Homo sapiens Q8NE08 32814053
种属内
PRKAG2 Q9UGJ0 SQSTM1 Homo sapiens Q13501 32814053
种属内
PRKAG2 Q9UGJ0 SQSTM1 Homo sapiens Q13501 32814053
种属内
PRKAG2 Q9UGJ0 SQSTM1 Homo sapiens Q13501 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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