Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51422
Gene name	Protein kinase AMP-activated non-catalytic subunit gamma 2
Gene symbol	PRKAG2
Synonyms (NCBI Gene)	AAKGAAKG2CMH6H91620pWPWS
Chromosome	7
Chromosome location	7q36.1
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. AMP

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28938173	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61746358	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, 5 prime UTR variant, missense variant, synonymous variant, coding sequence variant
rs116541276	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121908987	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121908988	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121908989	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121908990	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121908991	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139579816	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs144857453	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs193922697	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs201240745	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs201878539	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201953758	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs267606976	A>G	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267606977	T>C	Pathogenic	Missense variant, coding sequence variant
rs267606978	C>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267606979	A>G	Pathogenic	Missense variant, coding sequence variant
rs376173303	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs397517278	G>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs397517283	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs587776643	->TAA	Pathogenic	Coding sequence variant, inframe insertion
rs727504392	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880982	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730882148	C>G	Pathogenic	Coding sequence variant, missense variant
rs1131692281	C>G,T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1563161306	A>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments
MIRT1262410	hsa-miR-132	CLIP-seq
MIRT1262411	hsa-miR-1324	CLIP-seq
MIRT1262412	hsa-miR-155	CLIP-seq
MIRT1262413	hsa-miR-205	CLIP-seq
MIRT1262414	hsa-miR-212	CLIP-seq
MIRT1262415	hsa-miR-3121-3p	CLIP-seq
MIRT1262416	hsa-miR-3140-5p	CLIP-seq
MIRT1262417	hsa-miR-3614-5p	CLIP-seq
MIRT1262418	hsa-miR-4258	CLIP-seq
MIRT1262419	hsa-miR-4293	CLIP-seq
MIRT1262420	hsa-miR-4766-5p	CLIP-seq
MIRT1262421	hsa-miR-500a	CLIP-seq
MIRT1262422	hsa-miR-548al	CLIP-seq
MIRT1262423	hsa-miR-570	CLIP-seq
MIRT1262424	hsa-miR-1183	CLIP-seq
MIRT1262425	hsa-miR-1305	CLIP-seq
MIRT1262426	hsa-miR-181a	CLIP-seq
MIRT1262427	hsa-miR-181b	CLIP-seq
MIRT1262428	hsa-miR-181c	CLIP-seq
MIRT1262429	hsa-miR-181d	CLIP-seq
MIRT1262430	hsa-miR-200b	CLIP-seq
MIRT1262431	hsa-miR-200c	CLIP-seq
MIRT1262432	hsa-miR-2053	CLIP-seq
MIRT1262433	hsa-miR-320a	CLIP-seq
MIRT1262434	hsa-miR-320b	CLIP-seq
MIRT1262435	hsa-miR-320c	CLIP-seq
MIRT1262436	hsa-miR-320d	CLIP-seq
MIRT1262437	hsa-miR-3613-5p	CLIP-seq
MIRT1262438	hsa-miR-3692	CLIP-seq
MIRT1262439	hsa-miR-423-3p	CLIP-seq
MIRT1262440	hsa-miR-425	CLIP-seq
MIRT1262441	hsa-miR-4262	CLIP-seq
MIRT1262442	hsa-miR-429	CLIP-seq
MIRT1262443	hsa-miR-4422	CLIP-seq
MIRT1262444	hsa-miR-4429	CLIP-seq
MIRT1262445	hsa-miR-4661-3p	CLIP-seq
MIRT1262446	hsa-miR-4775	CLIP-seq
MIRT1262447	hsa-miR-498	CLIP-seq
MIRT1262448	hsa-miR-548u	CLIP-seq
MIRT1262449	hsa-miR-590-3p	CLIP-seq
MIRT1262450	hsa-miR-617	CLIP-seq
MIRT1262451	hsa-miR-7	CLIP-seq
MIRT1262426	hsa-miR-181a	CLIP-seq
MIRT1262427	hsa-miR-181b	CLIP-seq
MIRT1262428	hsa-miR-181c	CLIP-seq
MIRT1262429	hsa-miR-181d	CLIP-seq
MIRT1262416	hsa-miR-3140-5p	CLIP-seq
MIRT2077365	hsa-miR-3163	CLIP-seq
MIRT1262441	hsa-miR-4262	CLIP-seq
MIRT2077366	hsa-miR-4668-3p	CLIP-seq
MIRT1262447	hsa-miR-498	CLIP-seq
MIRT2077367	hsa-miR-499-3p	CLIP-seq
MIRT2077368	hsa-miR-499a-3p	CLIP-seq
MIRT2303862	hsa-miR-1301	CLIP-seq
MIRT1262426	hsa-miR-181a	CLIP-seq
MIRT1262427	hsa-miR-181b	CLIP-seq
MIRT1262428	hsa-miR-181c	CLIP-seq
MIRT1262429	hsa-miR-181d	CLIP-seq
MIRT1262441	hsa-miR-4262	CLIP-seq
MIRT2303863	hsa-miR-4676-5p	CLIP-seq
MIRT2077367	hsa-miR-499-3p	CLIP-seq
MIRT2077368	hsa-miR-499a-3p	CLIP-seq
MIRT2303864	hsa-miR-5047	CLIP-seq
MIRT2303865	hsa-miR-575	CLIP-seq
MIRT2303866	hsa-miR-323-3p	CLIP-seq
MIRT2303867	hsa-miR-4496	CLIP-seq
MIRT2392977	hsa-miR-214	CLIP-seq
MIRT1262417	hsa-miR-3614-5p	CLIP-seq
MIRT2392978	hsa-miR-3619-5p	CLIP-seq
MIRT1262418	hsa-miR-4258	CLIP-seq
MIRT2392979	hsa-miR-4274	CLIP-seq
MIRT2392980	hsa-miR-4291	CLIP-seq
MIRT2392981	hsa-miR-4462	CLIP-seq
MIRT2392982	hsa-miR-4711-5p	CLIP-seq
MIRT2392983	hsa-miR-495	CLIP-seq
MIRT1262422	hsa-miR-548al	CLIP-seq
MIRT2392984	hsa-miR-761	CLIP-seq
MIRT2392985	hsa-miR-922	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004679	Function	AMP-activated protein kinase activity	IEA
GO:0004862	Function	CAMP-dependent protein kinase inhibitor activity	IDA	17255938
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IDA	15877279
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005977	Process	Glycogen metabolic process	IMP	11827995, 15877279
GO:0006110	Process	Regulation of glycolytic process	IBA
GO:0006110	Process	Regulation of glycolytic process	IMP	15877279
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006754	Process	ATP biosynthetic process	TAS	11371514
GO:0008603	Function	CAMP-dependent protein kinase regulator activity	IMP	15877279
GO:0008607	Function	Phosphorylase kinase regulator activity	IMP	15877279
GO:0016126	Process	Sterol biosynthetic process	TAS	9208914
GO:0016208	Function	AMP binding	IBA
GO:0016208	Function	AMP binding	IEA
GO:0016208	Function	AMP binding	TAS
GO:0019217	Process	Regulation of fatty acid metabolic process	IMP	15877279
GO:0019887	Function	Protein kinase regulator activity	IBA
GO:0019887	Function	Protein kinase regulator activity	IDA	24563466
GO:0019887	Function	Protein kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	10698692
GO:0019901	Function	Protein kinase binding	IEA
GO:0030295	Function	Protein kinase activator activity	IMP	15877279
GO:0031588	Component	Nucleotide-activated protein kinase complex	IBA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IDA	15877279
GO:0031588	Component	Nucleotide-activated protein kinase complex	IEA
GO:0031588	Component	Nucleotide-activated protein kinase complex	ISS
GO:0031669	Process	Cellular response to nutrient levels	ISS
GO:0035556	Process	Intracellular signal transduction	IMP	15877279
GO:0042149	Process	Cellular response to glucose starvation	IBA
GO:0043531	Function	ADP binding	IDA	15877279
GO:0043609	Process	Regulation of carbon utilization	IBA
GO:0045722	Process	Positive regulation of gluconeogenesis	IBA
GO:0046320	Process	Regulation of fatty acid oxidation	TAS	9208914
GO:0046324	Process	Regulation of D-glucose import	TAS	11827995
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS

MIM	HGNC	e!Ensembl
602743	9386	ENSG00000106617

Q9UGJ0

Protein name

5'-AMP-activated protein kinase subunit gamma-2 (AMPK gamma2) (AMPK subunit gamma-2) (H91620p)

Protein function

AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:14722619, PubMed:24563466). In response to reduction of intracellular ATP leve

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00571	CBS	355 → 410	CBS domain	Domain
PF00571	CBS	429 → 484	CBS domain	Domain
PF00571	CBS	502 → 556	CBS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.

Sequence

MGSAVMDTKKKKDVSSPGGSGGKKNASQKRRSLRVHIPDLSSFAMPLLDGDLEGSGKHSS
RKVDSPFGPGSPSKGFFSRGPQPRPSSPMSAPVRPKTSPGSPKTVFPFSYQESPPRSPRR
MSFSGIFRSSSKESSPNSNPATSPGGIRFFSRSRKTSGLSSSPSTPTQVTKQHTFPLESY
KHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLASPTHYAPSKAAALAAALGPAEA
GMLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPTSSKLVVFDTTLQVKKAFFALVANG
VRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWRELYLQETFKP
LVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILTHKRILKFLQLFMSDMPKPAF
MKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRISALPVVDESGKVVDIYSKFDVIN
LAAEKTYNNLDITVTQALQHRSQYFEGVVKCNKLEILETIVDRIVRAEVHRLVVVNEADS
IVGIISLSDILQALILTPAGAKQKETETE

Sequence length

569

Interactions

View interactions

2240

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Pathogenic; Likely pathogenic	rs121908987, rs193922697	RCV000769245 RCV000030377
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs121908987, rs121908990, rs267606977	RCV000621452 RCV002399312 RCV002399313 RCV002369682
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	Pathogenic	rs121908987	RCV002222346
Gastric cancer	Pathogenic	rs121908991	RCV005887336
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727504392, rs121908987, rs28938173, rs121908991, rs267606977, rs267606978, rs193922697, rs397517283, rs1563161306	RCV000154556 RCV000768489 RCV000211739 RCV000038920 RCV000852579 RCV000211740 RCV000497723 RCV000038962 RCV000768490
Hypertrophic cardiomyopathy 6	Pathogenic; Likely pathogenic	rs121908987, rs587776643, rs28938173, rs121908989, rs267606977, rs267606978	RCV000007249 RCV000007251 RCV000007252 RCV000007253 RCV000007257 RCV000007258
Lethal congenital glycogen storage disease of heart	Pathogenic; Likely pathogenic	rs2151024166, rs730882148, rs2536276180, rs267606979, rs121908987, rs121908991, rs267606977, rs878855017, rs267606978, rs193922697, rs1563131309, rs1804721948, rs121908990, rs1808950153	RCV002007521 RCV000162026 RCV003037274 RCV002898663 RCV000458247 RCV000007255 RCV000813711 RCV000230623 RCV003508844 RCV001231512 RCV000641187 RCV000687370 RCV001061341 RCV001221470 RCV001213304
Primary familial hypertrophic cardiomyopathy	Pathogenic	rs121908987	RCV000211845
PRKAG2-related disorder	Likely pathogenic	rs28938173	RCV004528089
Wolff-Parkinson-White pattern	Pathogenic	rs121908987	RCV000007248
Wolff-Parkinson-White syndrome, childhood-onset	Pathogenic	rs121908990	RCV000007254

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2302533	RCV005923088
Arrhythmogenic right ventricular dysplasia 9	Conflicting classifications of pathogenicity	rs397517270	RCV000491968
Cervical cancer	Conflicting classifications of pathogenicity	rs567058170	RCV005899183
Congestive heart failure	Uncertain significance	rs150140412	RCV000852580
Familial cancer of breast	Conflicting classifications of pathogenicity	rs371543989	RCV005898095
Heart failure	Conflicting classifications of pathogenicity	rs148791216	RCV000853032
Hypertrophic cardiomyopathy 1	Uncertain significance	rs755029209	RCV001256862
Left ventricular hypertrophy	Uncertain significance	rs878855018	RCV000678733
Lung cancer	Benign	rs11763144	RCV005906862
Nonpapillary renal cell carcinoma	Uncertain significance; Benign	rs2150993817, rs6945103	RCV005911323 RCV005906849
Ovarian serous cystadenocarcinoma	Benign	rs762318729	RCV005922950
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs61744760, rs144857453	RCV001375651 RCV004017323
PRKAG2 cardiac syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs41317142, rs79474211	RCV003483592 RCV000148737
PRKAG2-related cardiomyopathy	Uncertain significance	rs1554596200	RCV006249663
Renal cysts and diabetes syndrome	Conflicting classifications of pathogenicity	rs79474211	RCV001258286
See cases	Conflicting classifications of pathogenicity	rs201240745	RCV001199301
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	rs1824696243, rs6945103	RCV005930563 RCV005906850

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	11827995, 15673802, 16716659
Activated Protein C Resistance	Associate	29298659
Adenomatous Polyposis Coli	Associate	23778007
Alzheimer Disease	Associate	32039845
Anorexia Nervosa	Associate	35703085
Arrhythmias Cardiac	Associate	11407343, 32646569
Atrial Fibrillation	Associate	32646569, 37203300
Atrioventricular Block	Associate	11827995
Autism Spectrum Disorder	Associate	31838722
Bornholm Eye Disease	Associate	33922358
Bradycardia	Associate	23741347, 35509080
Breast Neoplasms	Associate	23034890
Bulimia Nervosa	Associate	33922358
Cardiac Conduction System Disease	Associate	28690312
Cardiac form of generalized glycogenosis	Associate	15877279, 32646569
Cardiomegaly	Associate	11827995, 16716659, 23778007, 28546535, 28550180
Cardiomyopathies	Associate	28546535, 32150461, 32233023, 32646569, 35544052, 37932845
Cardiomyopathy Dilated	Associate	37932845
Cardiomyopathy Hypertrophic	Associate	15673802, 15766830, 15877279, 16716659, 23741347, 28498465, 28550180, 28771489, 28797094, 29298659, 30775854, 31347270, 32150461, 35413566, 37466024
Cardiomyopathy Hypertrophic Familial	Associate	16716659, 18403758, 28498465, 28690312
Cardiovascular Diseases	Associate	30813608
Chest Pain	Associate	15766830
Chromosome Aberrations	Associate	31345272
Colorectal Neoplasms	Associate	20622004
Conduct Disorder	Associate	23741347, 23778007
Death Sudden	Associate	31347270
Death Sudden Cardiac	Associate	15877279, 28546535, 28690312, 35509080, 36221081
Diabetes Mellitus	Associate	20682687, 28690312
Diabetic Nephropathies	Associate	29703844
Disease	Associate	15766830, 32646569
Epileptic Syndromes	Associate	16716659
Fibrosis	Associate	11827995, 28690312
Genetic Diseases Inborn	Associate	11407343
Gerstmann Straussler Scheinker Disease	Associate	33782433
Glycogen Storage Disease Type II	Associate	27692944
Glycogen Storage Disease Type IIb	Associate	15673802
Heart Arrest	Associate	28690312
Heart Defects Congenital	Associate	15877279
Heart Diseases	Associate	11827995, 15766830, 27692944, 28550180, 31347270, 37932845
Heart Failure	Associate	23741347, 32646569, 37932845
Hemorrhage	Associate	37203300
Hypertrophy	Associate	11827995, 23741347, 26496977, 28550180, 29298659
Hypertrophy Left Ventricular	Associate	15673802, 15766830, 23741347, 35509080
Hypertrophy Right Ventricular	Associate	16716659
Hypoxia	Associate	37932845
Inclusion Body Myopathy 3 Autosomal Dominant	Associate	15766830
Ischemic Attack Transient	Associate	28690312
Isolated Noncompaction of the Ventricular Myocardium	Associate	36221081
Learning Disabilities	Associate	28690312
Long QT Syndrome	Associate	34582124
Metabolic Diseases	Associate	11827995
Microvascular Angina	Associate	23741347, 23778007, 28690312, 29298659
Myalgia	Associate	15766830
Myocardial Ischemia	Associate	37932845
Non ST Elevated Myocardial Infarction	Associate	29298659
Obesity	Associate	29107296, 33922358, 39174891
Pancreatic Neoplasms	Stimulate	30997723
Pancreatic Neoplasms	Associate	30997723
Pre Excitation Syndromes	Associate	11407343, 11827995, 15673802, 16716659, 23741347, 23778007, 28546535, 28550180
Prostatic Neoplasms Castration Resistant	Associate	32704143
Pulmonary Disease Chronic Obstructive	Associate	30248490
Rectal Neoplasms	Associate	20622004
Renal Insufficiency Chronic	Associate	20383146, 21980298, 24253112, 35446786
Syncope	Associate	15766830
Syndrome	Associate	35509080
Ventricular Dysfunction Left	Associate	26496977
Ventricular Outflow Obstruction Left	Associate	16716659
Wolff Parkinson White Syndrome	Associate	11407343, 11827995, 15766830, 15877279, 28690312, 29298659

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