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PRKAG2 Gene

protein-coding   GIFtS: 66
GCID: GC07M151253

Protein Kinase, AMP-Activated, Gamma 2 Non-Catalytic Subunit

  See PRKAG2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Kinase, AMP-Activated, Gamma 2 Non-Catalytic Subunit1 2     WPWS2 5
AMPK Gamma21 3     5'-AMP-Activated Protein Kinase Subunit Gamma-22
H91620p2 3     AAKG2
AMPK Subunit Gamma-22 3     AAKG22
CMH62 5     Hypothetical Protein2

External Ids:    HGNC: 93861   Entrez Gene: 514222   Ensembl: ENSG000001066177   OMIM: 6027435   UniProtKB: Q9UGJ03   

Export aliases for PRKAG2 gene to outside databases

Previous GC identifers: GC07M149499 GC07M150568 GC07M150645 GC07M150690 GC07M150884 GC07M145065


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRKAG2 Gene:
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 and encodes a protein with four cystathionine
beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation
(Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate
transcriptional splice variants, encoding different isoforms, have been characterized. (provided by RefSeq, Jul
2008)

GeneCards Summary for PRKAG2 Gene:
PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit) is a protein-coding gene. Diseases associated with PRKAG2 include wolff-parkinson-white syndrome, and familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related. GO annotations related to this gene include protein kinase binding and cAMP-dependent protein kinase regulator activity. An important paralog of this gene is PRKAG1.

UniProtKB/Swiss-Prot: AAKG2_HUMAN, Q9UGJ0
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. In response to reduction of intracellular ATP levels,
AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate
and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of
metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a
regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin.
Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK:
AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing
phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation,
without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic
subunit, rendering the AMPK enzyme inactive

Gene Wiki entry for PRKAG2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRKAG2 gene promoter:
         FOXF2   Nkx2-2   FOXO3   CUTL1   Nkx2-5   FOXO3b   POU2F1   Sox9   FOXO3a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PRKAG2 promoter sequence
   Search Chromatin IP Primers for PRKAG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRKAG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q35-q36

PRKAG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRKAG2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M151253:  view genomic region     (about GC identifiers)

Start:
151,253,197 bp from pter      End:
151,574,316 bp from pter
Size:
321,120 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 150,582,427-150,901,526     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AAKG2_HUMAN, Q9UGJ0 (See protein sequence)
Recommended Name: 5'-AMP-activated protein kinase subunit gamma-2  
Size: 569 amino acids; 63066 Da
Subunit: AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a
gamma non-catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2
Sequence caution: Sequence=AAH20540.2; Type=Erroneous initiation; Sequence=AAS02032.1; Type=Erroneous gene model
prediction; Sequence=BAA84695.1; Type=Frameshift; Positions=228, 233; Note=Frameshifts are upstream of the
initiating Met of isoform B;
Secondary accessions: Q53Y07 Q6NUI0 Q75MP4 Q9NUZ9 Q9UDN8 Q9ULX8
Alternative splicing: 3 isoforms:  Q9UGJ0-1   Q9UGJ0-2   Q9UGJ0-3   

Explore the universe of human proteins at neXtProt for PRKAG2: NX_Q9UGJ0

Explore proteomics data for PRKAG2 at MOPED

Post-translational modifications: 

  • Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory
    feedback loop between ULK1 and AMPK1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PRKAG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035723.1  NP_057287.2  NP_077747.1  

    ENSEMBL proteins: 
     ENSP00000287878   ENSP00000387386   ENSP00000419577   ENSP00000376549   ENSP00000420645  
     ENSP00000420783   ENSP00000419493   ENSP00000417252   ENSP00000406544  
    Reactome Protein details: Q9UGJ0

    PRKAG2 Human Recombinant Protein Products:

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    Novus Biologicals PRKAG2 Proteins
    Novus Biologicals PRKAG2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PRKAG2 

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    Search eBioscience for ELISAs for PRKAG2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
    AMPK subfamily
    Selected non-AGC protein kinase activities

    1 InterPro protein domain:
     IPR000644 CBS_dom

    Graphical View of Domain Structure for InterPro Entry Q9UGJ0

    ProtoNet protein and cluster: Q9UGJ0

    1 Blocks protein domain: IPB000644 CBS domain

    UniProtKB/Swiss-Prot: AAKG2_HUMAN, Q9UGJ0
    Domain: The AMPK pseudosubstrate motif resembles the sequence around sites phosphorylated on target proteins of
    AMPK, except the presence of a non-phosphorylatable residue in place of Ser. In the absence of AMP this
    pseudosubstrate sequence may bind to the active site groove on the alpha subunit (PRKAA1 or PRKAA2), preventing
    phosphorylation by the upstream activating kinase STK11/LKB1
    Domain: The CBS domains mediate binding to AMP, ADP and ATP. 2 sites bind either AMP or ATP, whereas a third site
    contains a tightly bound AMP that does not exchange. Under physiological conditions AMPK mainly exists in its
    inactive form in complex with ATP, which is much more abundant than AMP
    Similarity: Belongs to the 5'-AMP-activated protein kinase gamma subunit family
    Similarity: Contains 4 CBS domains


    Find genes that share domains with PRKAG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AAKG2_HUMAN, Q9UGJ0
    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. In response to reduction of intracellular ATP levels,
    AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate
    and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of
    metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a
    regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin.
    Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK:
    AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing
    phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation,
    without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic
    subunit, rendering the AMPK enzyme inactive

         Genatlas biochemistry entry for PRKAG2:
    protein kinase,cAMP activated,gamma 2 non catalytic subunit,involved in fatty acid and cholesterol metabolism

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004862cAMP-dependent protein kinase inhibitor activity IDA17255938
    GO:0005524ATP binding IDA15877279
    GO:0008603cAMP-dependent protein kinase regulator activity IMP15877279
    GO:0008607phosphorylase kinase regulator activity IMP15877279
    GO:0016208AMP binding IEA--
         
    Find genes that share ontologies with PRKAG2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PRKAG2:
     Increased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRKAG2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRKAG2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PRKAG2 (see all 45):
    hsa-miR-124* hsa-miR-576-3p hsa-miR-548j hsa-miR-1197 hsa-miR-124 hsa-miR-4325 hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidPRKAG2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PRKAG2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): PRKAG2 (NM_016203)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRKAG2
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    Addgene plasmids for PRKAG2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKAG2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0031588AMP-activated protein kinase complex IDA15877279

    Find genes that share ontologies with PRKAG2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PRKAG2 About   (see all 22)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    Signaling by Insulin receptor0.80
    IRS-related events0.94
    PKB-mediated events0.41
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    mTOR signalling0.39
    IRS-mediated signalling0.92
    TOR signaling0.32
    2Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic
    AMPK inhibits chREBP transcriptional activation activity0.00
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Import of palmitoyl-CoA into the mitochondrial matrix0.00
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Clathrin derived vesicle budding
    Membrane Trafficking0.32
    Translocation of GLUT4 to the Plasma Membrane0.32


    Find genes that share SuperPaths with PRKAG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PRKAG2
        AMPK Enzyme Complex Pathway
    eNOS Signaling
    Molecular Mechanisms of Cancer

    1 Cell Signaling Technology (CST) Pathway for PRKAG2
        Glucose / Energy Metabolism

    1 Tocris Bioscience Pathway for PRKAG2
        mTOR Pathway

    1 GeneGo (Thomson Reuters) Pathway for PRKAG2
        Development Leptin signaling via PI3K-dependent pathway

    3 BioSystems Pathways for PRKAG2
        TOR signaling
    AMPK signaling
    Energy Metabolism

    Selected Reactome Pathways for PRKAG2 (see all 6)
        AMPK inhibits chREBP transcriptional activation activity
    Activation of PPARGC1A (PGC-1alpha) by phosphorylation
    Regulation of Rheb GTPase activity by AMPK
    Import of palmitoyl-CoA into the mitochondrial matrix
    Regulation of AMPK activity via LKB1

    1 PharmGKB Pathway for PRKAG2
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for PRKAG2) (see all 7):
        FoxO signaling pathway
    Circadian rhythm
    Insulin signaling pathway
    Adipocytokine signaling pathway
    Oxytocin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PRKAG2: 
              mTOR Signaling in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PRKAG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PRKAG2 (Q9UGJ03 ENSP000002878784) via UniProtKB, MINT, STRING, and/or I2D (see all 563)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005977glycogen metabolic process IMP11827995
    GO:0006110regulation of glycolytic process IMP15877279
    GO:0006112energy reserve metabolic process TAS--
    GO:0006469negative regulation of protein kinase activity IDA17255938
    GO:0006633fatty acid biosynthetic process IEA--

    Find genes that share ontologies with PRKAG2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRKAG2 (AAKG2)

    2 Novoseek inferred chemical compound relationships for PRKAG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 72.2 21 12782567 (2), 12546691 (2), 17546768 (1), 17597581 (1) (see all 16)
    sodium 0 1 12682004 (1)



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PRKAG2 gene (3 alternative transcripts): 
    NM_001040633.1  NM_016203.3  NM_024429.1  

    Unigene Cluster for PRKAG2:

    Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
    Hs.647072  [show with all ESTs]
    Unigene Representative Sequence: CR933725
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287878(uc003wkj.3 uc003wkk.3 uc010lqe.1) ENST00000418337(uc003wki.3 uc003wkl.2)
    ENST00000492843 ENST00000392801 ENST00000479461 ENST00000485183 ENST00000478989
    ENST00000488258 ENST00000476632 ENST00000493872 ENST00000491938 ENST00000483775
    ENST00000481434(uc003wkm.1) ENST00000487375 ENST00000461529 ENST00000474383
    ENST00000433631(uc011kvl.2)
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    hsa-miR-124* hsa-miR-576-3p hsa-miR-548j hsa-miR-1197 hsa-miR-124 hsa-miR-4325 hsa-miR-548d-5p hsa-miR-548a-5p
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      QuantiTect SYBR Green Assays in human, mouse, rat PRKAG2
      QuantiFast Probe-based Assays in human, mouse, rat PRKAG2

    Additional mRNA sequence: 

    AB025580.1 AF087875.1 AJ249976.1 AK000930.1 AK001887.1 AK301123.1 AK307798.1 AK308116.1 
    AK314646.1 BC020540.1 BC068598.1 BT007127.1 CR933725.1 

    23 DOTS entries:

    DT.455343  DT.100023469  DT.102833657  DT.99927781  DT.100786504  DT.100786498  DT.103138  DT.121098911 
    DT.95084725  DT.100786500  DT.70103539  DT.40287610  DT.91718870  DT.121098956  DT.92060394  DT.97780101 
    DT.99997298  DT.121098906  DT.121098910  DT.121098978  DT.121098993  DT.106478  DT.40113798 

    Selected AceView cDNA sequences (see all 235):

    AI744100 F11415 AK074675 AI202776 BE222644 BE327456 CB156190 AI658804 
    AW024813 AA133427 AI084919 AW614193 AA962226 AB025580 BE676240 BM785608 
    CA433605 AA456410 AA478472 AI567422 CR599607 CB114879 AL558594 AI697848 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PRKAG2 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^
    SP1:                          -     -     -                 -     -           -     -     -           -                 -                 -                     
    SP2:                                                        -     -           -     -     -           -                 -                 -                     
    SP3:                                                                                                  -                 -                 -                     
    SP4:                                                                                                  -                 -                 -                     
    SP5:                                                                                                                    -                 -                     

    ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b
    SP1:  -                 -                 -               
    SP2:  -                 -                 -               
    SP3:  -                 -                 -               
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for PRKAG2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRKAG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTTGTTA
    PRKAG2 Expression
    About this image


    PRKAG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    PRKAG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRKAG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647072

    UniProtKB/Swiss-Prot: AAKG2_HUMAN, Q9UGJ0
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PRKAG2: 
              mTOR Signaling in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Diabetes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRKAG2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prkag21 , 5 protein kinase, AMP-activated, gamma 2 non-catalytic subunit less1, 5 89.52(n)1
    93.99(a)1
      5 (11.93 cM)5
    1080991  NM_145401.21  NP_663376.21 
     248627445 
    chicken
    (Gallus gallus)
    Aves PRKAG21 protein kinase, AMP-activated, gamma 2 non-catalytic subunit less 80.46(n)
    85.44(a)
      420435  NM_001278142.1  NP_001265071.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRKAG26
    protein kinase, AMP-activated, gamma 2 non-catalyt...
    91(a)
    1 ↔ 1
    6(3990600-4018119)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685032 hypothetical protein MGC68503 78.82(n)    BC060444.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.143532 Transcribed sequence with moderate similarity to protein spP54619 (H.sapiens) AAKG_HUMAN 5'-AMP-activated protein kinase, gamma-1 subunit (AMPK gamma-1 chain) (AMPKg) less 80.03(n)    CA473636.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SNF4Agamma3 protein amino acid phosphorylation
    protein serine/threonine kinase less
    62(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y111B2A.83   -- 55(a)
    (best of 3)
      III(12610648-12616456)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF4(YGL115W)4 Activating gamma subunit of the AMP-activated Snf1p kinase complex (contains Snf1p and a Sip1p/Sip2p/Gal83p family member); activates glucose-repressed genes, represses glucose-induced genes; role in sporulation, and peroxisome biogenesis less   --   7(292033-293001) 852763  NP_011400.1 


    ENSEMBL Gene Tree for PRKAG2 (if available)
    TreeFam Gene Tree for PRKAG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRKAG2 gene
    PRKAG12  PRKAG32  
    3 SIMAP similar genes for PRKAG2 using alignment to 8 protein entries:     AAKG2_HUMAN (see all proteins):
    DKFZp781C1522    PRKAG1    PRKAG3

    Find genes that share paralogs with PRKAG2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRKAG2 (see all 7801)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0132644
    Wolff-Parkinson-White syndrome (WPWS)4--see VAR_0132642 R Q mis40--------
    VAR_0132684
    Cardiomyopathy, familial hypertrophic 6 (CMH6)4--see VAR_0132682 N I mis40--------
    VAR_0132664
    Cardiomyopathy, familial hypertrophic 6 (CMH6)4--see VAR_0132662 H R mis40--------
    VAR_0329094
    Wolff-Parkinson-White syndrome (WPWS)4--see VAR_0329092 R G mis40--------
    VAR_0132694
    Glycogen storage disease of heart lethal congenital (GSDH)4--see VAR_0132692 R Q mis40--------
    rs1481972541,2
    C,Fprobable-non-pathogenic1154709457(+) ACCAGC/TCGATG 6 R syn12Minor allele frequency- T:0.00NA EU 5873
    rs794742111,2
    C,Fprobable-pathogenic1154930131(+) AGAGCC/TGGGGC 4 S G mis12Minor allele frequency- T:0.00NA EU 5265
    rs3703945161,2
    C--150589133(+) AATTA-/GGTGG 
     GTGTGGT
    GGCGG
    6 -- int1 cds10--------
    rs113615071,2
    C--150598555(+) TAAAG-/AAACAA 3 -- int10--------
    rs1439622071,2
    C--150599455(+) TAGAG-/AAAAAA 3 -- int10--------

    HapMap Linkage Disequilibrium report for PRKAG2 (151253197 - 151503197 bp, first 250kb of PRKAG2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PRKAG2 (see all 52):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735427CNV Deletion23290073
    esv2735404CNV Deletion23290073
    esv2735426CNV Deletion23290073
    esv1001094CNV Deletion20482838
    dgv1175e201CNV Deletion23290073
    esv2735425CNV Deletion23290073
    esv2735416CNV Deletion23290073
    esv2735413CNV Deletion23290073
    esv2735411CNV Deletion23290073
    esv2080091CNV Deletion18987734

    Human Gene Mutation Database (HGMD): PRKAG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRKAG2
    DNA2.0 Custom Variant and Variant Library Synthesis for PRKAG2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602743   
    OMIM disorders: 194200  600858  261740  
    UniProtKB/Swiss-Prot: AAKG2_HUMAN, Q9UGJ0
  • Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]: A supernormal conduction disorder characterized by
    the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic
    tachycardia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858]: A hereditary heart disorder characterized by
    ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms
    include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The
    disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of
    cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation,
    enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]: Rare disease which leads to
    death within a few weeks to a few months after birth, through heart failure and respiratory compromise. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for PRKAG2:    
    About MalaCards
    wolff-parkinson-white syndrome    familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related    lethal congenital glycogen storage disease of the heart    cardiomyopathy, familial hypertrophic 6
    neurodegeneration with brain iron accumulation 2b    parkinson disease 14    danon disease    phosphorylase kinase deficiency

    3 diseases from the University of Copenhagen DISEASES database for PRKAG2:
    Wolff-Parkinson-White syndrome     Hypertrophic cardiomyopathy     Glycogen storage disease

    Find genes that share disorders with PRKAG2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PRKAG2 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wolff-parkinson-white syndrome 88.6 22 12716108 (4), 12782567 (2), 15877279 (2), 11748095 (1) (see all 14)
    ventricular pre-excitation 86.9 6 16716659 (3), 12957447 (1), 17711718 (1), 11827995 (1)
    danon disease 84.7 2 17546768 (1), 17667862 (1)
    glycogen storage disease 83.4 11 15877279 (4), 16487706 (3), 12782567 (1), 18691923 (1) (see all 6)
    cardiac hypertrophy 77.3 16 16716659 (4), 11748095 (3), 20005292 (1), 12015471 (1) (see all 11)
    ventricular hypertrophy 64.2 6 16716659 (2), 12782567 (1), 18033003 (1), 11827995 (1) (see all 5)
    cardiomyopathy 63.8 20 18158359 (4), 16275868 (4), 12782567 (3), 17546768 (1) (see all 12)
    hypertrophy 62.6 7 15673802 (2), 12782567 (1), 16267253 (1), 17990392 (1) (see all 5)
    defect conduction 61.5 4 17483151 (2), 11748095 (1), 18033003 (1)
    pompe disease 56.9 3 17546768 (1), 15673802 (1)

    Genetic Association Database (GAD): PRKAG2
    Human Genome Epidemiology (HuGE) Navigator: PRKAG2 (18 documents)

    Export disorders for PRKAG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PRKAG2 gene, integrated from 10 sources (see all 124):
    (articles sorted by number of sources associating them with PRKAG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. (PubMed id 15877279)1, 2, 9 Burwinkel B.... Kilimann M.W. (Am. J. Hum. Genet. 2005)
    2. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. (PubMed id 11748095)1, 2, 9 Gollob M.H.... Roberts R. (Circulation 2001)
    3. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (PubMed id 11827995)1, 2, 9 Arad M.... Seidman C.E. (J. Clin. Invest. 2002)
    4. Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease. (PubMed id 20022652)1, 4, 9 Nouira S....Abdelhak S. (Diabetes Res. Clin. Pract. 2010)
    5. Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma-2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36. (PubMed id 11112354)1, 2, 9 Lang T.M....Zhao S. (Genomics 2000)
    6. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4, 9 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    7. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4, 9 Kaski J.P....Elliott P.M. (Circ Cardiovasc Genet 2009)
    8. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 4, 9 Morita H.... Seidman C.E. (N. Engl. J. Med. 2008)
    9. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. (PubMed id 11371514)1, 2, 9 Blair E.... Watkins H. (Hum. Mol. Genet. 2001)
    10. Identification of a gene responsible for familial Wolff-Parkinson- White syndrome. (PubMed id 11407343)1, 2, 9 Gollob M.H.... Roberts R. (N. Engl. J. Med. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51422 HGNC: 9386 AceView: PRKAG2 Ensembl:ENSG00000106617 euGenes: HUgn51422
    ECgene: PRKAG2 Kegg: 51422 H-InvDB: PRKAG2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PRKAG2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PRKAG2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRKAG2 gene:
    Search GeneIP for patents involving PRKAG2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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