ENSG00000106617


Homo sapiens

Features
Gene ID: ENSG00000106617
  
Biological name :PRKAG2
  
Synonyms : PRKAG2 / protein kinase AMP-activated non-catalytic subunit gamma 2 / Q9UGJ0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q36.1
Gene start: 151556111
Gene end: 151877125
  
Corresponding Affymetrix probe sets: 215231_at (Human Genome U133 Plus 2.0 Array)   218292_s_at (Human Genome U133 Plus 2.0 Array)   222582_at (Human Genome U133 Plus 2.0 Array)   231224_x_at (Human Genome U133 Plus 2.0 Array)   233748_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419493
Ensembl peptide - ENSP00000417252
Ensembl peptide - ENSP00000419577
Ensembl peptide - ENSP00000420783
Ensembl peptide - ENSP00000420645
Ensembl peptide - ENSP00000287878
Ensembl peptide - ENSP00000376549
Ensembl peptide - ENSP00000387386
NCBI entrez gene - 51422     See in Manteia.
OMIM - 602743
RefSeq - XM_017012282
RefSeq - XM_017012270
RefSeq - XM_017012271
RefSeq - XM_017012272
RefSeq - XM_017012273
RefSeq - XM_017012274
RefSeq - XM_017012275
RefSeq - XM_017012276
RefSeq - XM_017012277
RefSeq - XM_017012278
RefSeq - XM_017012279
RefSeq - XM_017012280
RefSeq - XM_017012281
RefSeq - NM_001040633
RefSeq - NM_001304527
RefSeq - NM_001304531
RefSeq - NM_016203
RefSeq - NM_024429
RefSeq - XM_005250002
RefSeq - XM_005250004
RefSeq - XM_005250006
RefSeq - XM_006716021
RefSeq - XM_011516282
RefSeq - XM_011516283
RefSeq - XM_011516284
RefSeq - XM_011516285
RefSeq - XM_011516286
RefSeq - XM_011516287
RefSeq - XM_017012268
RefSeq - XM_017012269
RefSeq Peptide - NP_001291456
RefSeq Peptide - NP_001291460
RefSeq Peptide - NP_057287
RefSeq Peptide - NP_077747
RefSeq Peptide - NP_001035723
swissprot - Q9UGJ0
swissprot - A0A090N8Q6
swissprot - E9PGP6
swissprot - C9JUG1
swissprot - F8WAY3
swissprot - F8WDA1
swissprot - F8WDB5
Ensembl - ENSG00000106617
  
Related genetic diseases (OMIM): 194200 - Wolff-Parkinson-White syndrome, 194200
  261740 - Glycogen storage disease of heart, lethal congenital, 261740
  600858 - Cardiomyopathy, hypertrophic 6, 600858
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 prkag2aENSDARG00000012625Danio rerio
 prkag2bENSDARG00000001933Danio rerio
 PRKAG2ENSGALG00000006219Gallus gallus
 Prkag2ENSMUSG00000028944Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P54619 / PRKAG1 / protein kinase AMP-activated non-catalytic subunit gamma 1ENSG0000018192942
PRKAG3 / Q9UGI9 / protein kinase AMP-activated non-catalytic subunit gamma 3ENSG0000011559238


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005977 glycogen metabolic process IMP
 biological_processGO:0006110 regulation of glycolytic process IMP
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006469 negative regulation of protein kinase activity IDA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006633 fatty acid biosynthetic process IEA
 biological_processGO:0006754 ATP biosynthetic process TAS
 biological_processGO:0006853 carnitine shuttle TAS
 biological_processGO:0007050 cell cycle arrest TAS
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation IMP
 biological_processGO:0016126 sterol biosynthetic process TAS
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0016241 regulation of macroautophagy TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019217 regulation of fatty acid metabolic process IMP
 biological_processGO:0032147 activation of protein kinase activity IEA
 biological_processGO:0035556 intracellular signal transduction IMP
 biological_processGO:0042304 regulation of fatty acid biosynthetic process TAS
 biological_processGO:0045860 positive regulation of protein kinase activity IMP
 biological_processGO:0046320 regulation of fatty acid oxidation TAS
 biological_processGO:0046324 regulation of glucose import TAS
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0071901 negative regulation of protein serine/threonine kinase activity IEA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0031588 nucleotide-activated protein kinase complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004679 AMP-activated protein kinase activity IEA
 molecular_functionGO:0004862 cAMP-dependent protein kinase inhibitor activity IDA
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0008603 cAMP-dependent protein kinase regulator activity IMP
 molecular_functionGO:0008607 phosphorylase kinase regulator activity IMP
 molecular_functionGO:0016208 AMP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019901 protein kinase binding IDA
 molecular_functionGO:0030295 protein kinase activator activity IMP
 molecular_functionGO:0043531 ADP binding IDA


Pathways (from Reactome)
Pathway description
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Macroautophagy
AMPK inhibits chREBP transcriptional activation activity
Import of palmitoyl-CoA into the mitochondrial matrix
Activation of PPARGC1A (PGC-1alpha) by phosphorylation
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
Regulation of TP53 Activity through Phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000158 Macroglossia "Increased length and width of the tongue." [pmid:19125428]
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 HP:0000961 Cyanosis 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001297 Stroke 
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 HP:0001425 Heterogeneous 
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 HP:0001541 Ascites 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001640 Cardiomegaly 
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 HP:0001645 Sudden cardiac death 
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 HP:0001670 Asymmetric septal hypertrophy 
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 HP:0001678 Atrioventricular block 
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 HP:0001688 Sinus bradycardia 
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 HP:0001716 Wolf-Parkinson-White syndrome 
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 HP:0001962 Palpitations 
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 HP:0001998 Neonatal hypoglycemia 
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 HP:0001999 Facial dysmorphism 
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 HP:0002615 Hypotension 
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 HP:0004309 Pre-excitation syndromes 
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 HP:0004757 paroxysmal atrial fibrillation 
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 HP:0004763 Paroxysmal supraventricular tachycardia 
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 HP:0005110 Atrial fibrillation 
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 HP:0005165 Shortened P-R interval on EKG 
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 HP:0006677 Short pr interval and prolonged qrs, with slurred-up stroke of the r wave on ekg 
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 HP:0006684 Higher incidence of multiple accessory pathways 
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 HP:0011713 Left bundle branch block "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [DDD:dbrown, HPO:probinson]
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 HP:0100598 Pulmonary edema "Fluid accumulation in the lungs." [HPO:sdoelken]
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 HP:0200128 Biventricular hypertrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000023287 Q8TDY2 / RB1CC1 / RB1 inducible coiled-coil 1  / complex / reaction
 ENSG00000111725 PRKAB1 / Q9Y478 / protein kinase AMP-activated non-catalytic subunit beta 1  / complex
 ENSG00000131791 O43741 / PRKAB2 / protein kinase AMP-activated non-catalytic subunit beta 2  / complex
 ENSG00000130766 SESN2 / P58004 / sestrin 2  / complex / reaction
 ENSG00000175224 ATG13 / O75143 / autophagy related 13  / reaction / complex
 ENSG00000177169 ULK1 / O75385 / unc-51 like autophagy activating kinase 1  / complex / reaction
 ENSG00000009950 MLXIPL / Q9NP71 / MLX interacting protein like  / reaction
 ENSG00000088986 DYNLL1 / P63167 / dynein light chain LC8-type 1  / reaction
 ENSG00000078142 PIK3C3 / Q8NEB9 / phosphatidylinositol 3-kinase catalytic subunit type 3  / reaction
 ENSG00000126775 ATG14 / Q6ZNE5 / autophagy related 14  / reaction
 ENSG00000110497 AMBRA1 / Q9C0C7 / autophagy and beclin 1 regulator 1  / reaction
 ENSG00000116954 RRAGC / Q9HB90 / Ras related GTP binding C  / reaction
 ENSG00000126581 BECN1 / Q14457 / beclin 1  / reaction
 ENSG00000162409 P54646 / PRKAA2 / protein kinase AMP-activated catalytic subunit alpha 2  / complex
 ENSG00000155876 RRAGA / Q7L523 / Ras related GTP binding A  / reaction
 ENSG00000123395 ATG101 / Q9BSB4 / autophagy related 101  / reaction / complex
 ENSG00000165699 TSC1 / Q92574 / TSC complex subunit 1  / reaction
 ENSG00000109819 Q9UBK2 / PPARGC1A / PPARG coactivator 1 alpha  / reaction
 ENSG00000198793 MTOR / P42345 / mechanistic target of rapamycin kinase  / reaction
 ENSG00000025039 RRAGD / Q9NQL2 / Ras related GTP binding D  / reaction
 ENSG00000141510 TP53 / P04637 / tumor protein p53  / reaction
 ENSG00000196455 PIK3R4 / Q99570 / phosphoinositide-3-kinase regulatory subunit 4  / reaction
 ENSG00000141564 RPTOR / Q8N122 / regulatory associated protein of MTOR complex 1  / reaction
 ENSG00000083750 RRAGB / Q5VZM2 / Ras related GTP binding B  / reaction
 ENSG00000132356 PRKAA1 / Q13131 / protein kinase AMP-activated catalytic subunit alpha 1  / complex
 ENSG00000106615 RHEB / Q15382 / Ras homolog, mTORC1 binding  / reaction
 ENSG00000264364 DYNLL2 / Q96FJ2 / dynein light chain LC8-type 2  / reaction
 ENSG00000167965 MLST8 / Q9BVC4 / MTOR associated protein, LST8 homolog  / reaction
 ENSG00000080546 SESN1 / Q9Y6P5 / sestrin 1  / reaction / complex
 ENSG00000177058 Q8NBW4 / SLC38A9 / solute carrier family 38 member 9  / reaction
 ENSG00000103197 TSC2 / P49815 / TSC complex subunit 2  / reaction
 ENSG00000100614 PPM1A / P35813 / protein phosphatase, Mg2+/Mn2+ dependent 1A  / reaction
 ENSG00000118046 STK11 / Q15831 / serine/threonine kinase 11  / reaction






 

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