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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRKAB2 Gene

protein-coding   GIFtS: 67
GCID: GC01M146627

protein kinase, AMP-activated, beta 2 non-catalytic subunit

 Explore 12 diseases affiliated with
PRKAB2 via our new
 Human Malady Compendium 
Biological research products
for PRKAB2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Protein Kinase, AMP-Activated, Beta 2 Non-Catalytic Subunit1 2
AMPK Subunit Beta-22 3
5'-AMP-Activated Protein Kinase Subunit Beta-22
5'-AMP-Activated Protein Kinase, Beta-2 Subunit2
AMPK Beta 22
AMPK Beta-2 Chain2

External Ids:    HGNC: 93791   Entrez Gene: 55652   Ensembl: ENSG000001317917   OMIM: 6027415   UniProtKB: O437413   

Export aliases for PRKAB2 gene to outside databases

Previous GC identifers: GC01M144845 GC01M143356 GC01M143971 GC01M144138 GC01M144133 GC01M143851 GC01M145093 GC01M120041


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRKAB2:
The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a
heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important
energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is
activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy
beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and
cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and
thus may have tissue-specific roles. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AAKB2_HUMAN, O43741
Function: Non-catalytic 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. Beta non-catalytic subunit acts as a
scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma
subunits (PRKAG1, PRKAG2 or PRKAG3)

Gene Wiki entry for PRKAB2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167185.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRKAB2 gene promoter:
         GR   Spz1   AML1a   Lmo2   GATA-1   MEF-2A   ZIC2/Zic2   GR-alpha   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRKAB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRKAB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRKAB2


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.2

PRKAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRKAB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M146627:  view genomic region     (about GC identifiers)

Start:
146,626,685 bp from pter      End:
146,644,129 bp from pter
Size:
17,445 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AAKB2_HUMAN, O43741 (See protein sequence)
Recommended Name: 5'-AMP-activated protein kinase subunit beta-2  
Size: 272 amino acids; 30302 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)
6/10 PDB 3D structures from and Proteopedia for PRKAB2 (see all 10):
2F15 (3D)        2V8Q (3D)        2V92 (3D)        2V9J (3D)        2Y8L (3D)        2Y8Q (3D)    
Secondary accessions: A8K9V5 Q5VXY0

Explore the universe of human proteins at neXtProt for PRKAB2: NX_O43741

Post-translational modifications:

  • Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1 and ULK2; leading
  • to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1, ULK2 and
    AMPK1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43741

  • PRKAB2 Protein expression data from MOPED and PaxDb:    About this image 
    PRKAB2 Protein Expression
    REFSEQ proteins: NP_005390.1  
    ENSEMBL proteins: 
     ENSP00000254101   ENSP00000415469  
    Reactome Protein details: O43741
    Human Recombinant Protein Products for PRKAB2: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005952cAMP-dependent protein kinase complex ----
    GO:0016324apical plasma membrane ----

    PRKAB2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PRKAB2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006828 AMP_prot_kin_bsu_interact-dom

    Graphical View of Domain Structure for InterPro Entry O43741

    ProtoNet protein and cluster: O43741

    1 Blocks protein family: IPB006828 5-AMP-activated protein kinase

    UniProtKB/Swiss-Prot: AAKB2_HUMAN, O43741
    Similarity: Belongs to the 5'-AMP-activated protein kinase beta subunit family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AAKB2_HUMAN, O43741
    Function: Non-catalytic 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. Beta non-catalytic subunit acts as a
    scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma
    subunits (PRKAG1, PRKAG2 or PRKAG3)

         Genatlas biochemistry entry for PRKAB2:
    protein kinase,cAMP activated,beta 2 non catalytic subunit,highly expressed in skeletal and cardiac muscle,complexing
    with alpha 2 and gamma 1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004679contributes to AMP-activated protein kinase activity IDA--
    GO:0005515protein binding IPI--
    GO:0016301kinase activity ----
    GO:0019901protein kinase binding ----
    GO:0042802identical protein binding IPI--
         
    PRKAB2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Prkab2):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle 

    PRKAB2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Prkab2tm1.1Grst for PRKAB2
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PRKAB2 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/23 super-pathways (see all 23About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1IRS-related events
    IRS-related events1.00
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.90
    IRS-mediated signalling0.98
    IGF1R signaling cascade0.90
    Insulin receptor signalling cascade0.94
    PI3K Cascade0.84
    IRS-related events triggered by IGF1R0.93
    Signaling by Insulin receptor0.74
    2Development_Leptin signaling via PI3K-dependent pathway
    Development_Leptin signaling via PI3K-dependent pathway1.00
    Adipocytokine signaling pathway0.29
    Development Leptin signaling via PI3K-dependent pathway1.00
    3Energy dependent regulation of mTOR by LKB1-AMPK
    Energy dependent regulation of mTOR by LKB1-AMPK1.00
    Regulation of Rheb GTPase activity by AMPK0.59
    Regulation of AMPK activity via LKB10.82
    4mTOR signalling
    mTOR signalling1.00
    TOR signaling0.33
    PKB-mediated events0.96
    5Membrane Trafficking
    Membrane Trafficking1.00
    Translocation of GLUT4 to the Plasma Membrane0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PRKAB2
        Development Leptin signaling via PI3K-dependent pathway

    1 R&D Systems Pathway for PRKAB2
        Adipocytokines & Insulin Signaling

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRKAB2
        AMPK Enzyme Complex Pathway
    eNOS Signaling
    Molecular Mechanisms of Cancer

    1 Cell Signaling Technology (CST) Pathway for PRKAB2
        Glucose / Energy Metabolism

    1 Tocris Bioscience Pathway for PRKAB2
        mTOR Pathway

    2 GeneGo (Thomson Reuters) Pathways for PRKAB2
        Regulation of CFTR activity (norm and CF)
    Development Leptin signaling via PI3K-dependent pathway

    3 BioSystems Pathways for PRKAB2 
        AMPK signaling
    TOR signaling
    Energy Metabolism

    5/22        Reactome Pathways for PRKAB2 (see all 22)
        Membrane Trafficking
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    IRS-related events
    IRS-mediated signalling

    1 PharmGKB Pathway for PRKAB2
        Metformin Pathway, Pharmacodynamic

    3         Kegg Pathways  (Kegg details for PRKAB2):
        Insulin signaling pathway
    Adipocytokine signaling pathway
    Hypertrophic cardiomyopathy (HCM)


    PRKAB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRKAB2

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

    5/538 Interacting proteins for PRKAB2 (O437411, 3 ENSP000002541014) via UniProtKB, MINT, STRING, and/or I2D (see all 538)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL9P329693I2D: score=1 
    RPL9P7P329693I2D: score=1 
    RPL9P8P329693I2D: score=1 
    RPL9P9P329693I2D: score=1 
    PRKAG1P546191, 3, ENSP000003238674EBI-1053424,EBI-1181439 I2D: score=5 STRING: ENSP00000323867
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006853carnitine shuttle TAS--
    GO:0007050cell cycle arrest TAS--
    GO:0007165signal transduction TAS9575201

    PRKAB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for PRKAB2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PRKAB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Dorsomorphin dihydrochloridePotent and selective AMPK inhibitor[1219168-18-9]
    Metformin hydrochlorideActivator of LKB1/AMPK; antidiabetic agent[1115-70-4]
    SAMS PeptideAMP-activated protein kinase substrate[125911-68-4]
    AICARAMPK activator[2627-69-2]
    PT 1AMPK activator[331002-70-1]

    1 DrugBank Compound for PRKAB2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetactivator17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about PRKAB2 / AAKB2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for PRKAB2 gene: 
    NM_005399.3  

    Unigene Cluster for PRKAB2:

    Protein kinase, AMP-activated, beta 2 non-catalytic subunit
    Hs.50732  [show with all ESTs]
    Unigene Representative Sequence: NM_005399
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254101(uc001epe.3 uc010ozm.2 uc010ozn.2 uc009wjf.1)
    ENST00000496858 ENST00000474939 ENST00000425272

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    Additional cDNA sequence: 

    AJ224538.1 AK023717.1 AK292820.1 AK294863.1 AK304069.1 AK310982.1 AK316005.1 AK316183.1 
    BC053610.1 

    4 DOTS entries:

    DT.455144  DT.65287847  DT.100789732  DT.100789728 

    24/175 AceView cDNA sequences (see all 175):

    BG120550 BX099154 CB111633 AI167562 AA535114 BF055989 AW079116 BU619639 
    AI797698 AI203557 BQ775446 D17070 BM975805 BQ772256 AI638769 BU631766 
    CB145618 AI651077 AI621036 BI490916 CR591350 N78576 BM980118 BF593384 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PRKAB2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
    SP1:                                                  -                     
    SP2:              -                                   -                     
    SP3:              -                                                         
    SP4:                                                                        


    ECgene alternative splicing isoforms for PRKAB2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRKAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGGTTGGTA
    PRKAB2 Expression
    About this image

    PRKAB2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PRKAB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRKAB2

    SOURCE GeneReport for Unigene cluster: Hs.50732
        SABiosciences Expression via Pathway-Focused PCR Arrays including PRKAB2: 
              mTOR Signaling in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Cardiotoxicity in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PRKAB2 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PRKAB21 protein kinase, AMP-activated, beta 2 non-catalytic more 79.53(n)
    90.44(a)
      427017  NM_001044662.1  NP_001038127.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRKAB26
    --
    86(a)
    1 ↔ 1
    4(73746163-73752505)
    African clawed frog
    (Xenopus laevis)
    Amphibia prkab2-prov2 protein kinase, AMP-activated, beta 2 non-catalytic more 75.06(n)    BC053787.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prkab21 protein kinase, AMP-activated, beta 2 non-catalytic more 71.72(n)
    76.89(a)
      100170795  NM_001130633.1  NP_001124105.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG80573 SNF1A/AMP-activated protein kinase 58(a)   45A11   --
    worm
    (Caenorhabditis elegans)
    Secernentea F55F3.13
    aakb-11
    Protein AAKB-11 50(a)
    (best of 2)3
    53.68(n)1
    54.87(a)1
      X(13791061-13793948)3
    1814921  NM_077897.51  NP_510298.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SIP2(YGL208W)4
    SIP21
    One of three beta subunits of the Snf1 serine/threonine more4
    Sip2p1
    49.57(n)1
    41.03(a)1
      7(97338-98585)4
    8526641, 4  NP_011307.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AKINBETA11 SNF1-related protein kinase regulatory subunit beta-1 47.88(n)
    34.52(a)
      832243  NM_122124.3  NP_197615.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g04912001 hypothetical protein 49.07(n)
    39.09(a)
      4339173  NM_001062443.1  NP_001055908.1 


    ENSEMBL Gene Tree for PRKAB2 (if available)
    TreeFam Gene Tree for PRKAB2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRKAB2 gene
    PRKAB12  
    1 SIMAP similar gene for PRKAB2 using alignment to 2 protein entries:     AAKB2_HUMAN (see all proteins):
    PRKAB1

    PRKAB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/312 NCBI SNPs in PRKAB2 are shown (see all 312    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1144753181,2
    C,F--146626404(+) GGGATG/AAGAAT 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs66785881,2
    C,F,H--146626483(+) CTGAAA/CATCAA 1 -- ds500118Minor allele frequency- C:0.07NS EA NA WA CSA 2032
    rs1394403591,2
    --146626484(+) TGAAAA/GTCAAA 1 -- ds50010--------
    rs1416393071,2
    --146626524(+) CATAGC/TCTGAA 1 -- ds50010--------
    rs1831274611,2
    --146626748(+) ATGTAC/TCATAT 1 -- ut310--------
    rs1462034241,2
    --146626803(+) TGAAGA/GACAGC 1 -- ut310--------
    rs1139597711,2
    C--146626823(+) CACTC-/TTGTCTG 1 -- ut311Minor allele frequency- TT:0.00CSA 2
    rs1886126341,2
    --146626890(+) AAAAAA/GCACCA 1 -- ut310--------
    rs69371,2
    C,F,A,H--146626922(-) AAGGGA/GATTAA 1 -- ut3126Minor allele frequency- G:0.40MN EA NA NS WA 4488
    rs1397087561,2
    --146626940(+) GTCTTA/CTCTCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PRKAB2 (146626685 - 146644129 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PRKAB2
         1 CNV: 3312
         1 Indel: 33208
         1 Inversion: 29494

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

    PRKAB2 for disorders           About GeneDecksing

    OMIM gene information: 602741    OMIM disorders: --

    12 diseases for PRKAB2:    About MalaCards
    atrioventricular septal defect    type 2 diabetes mellitus    lafora disease    diabetes mellitus
    intrahepatic cholangiocarcinoma    cellulitis    cholesterol    cholangiocarcinoma
    hepatocellular carcinoma    atherosclerosis    thyroiditis    carcinoma

    1 disease from the University of Copenhagen DISEASES database for PRKAB2:
    Atrioventricular septal defect
    Genetic Association Database (GAD): PRKAB2
    Human Genome Epidemiology (HuGE) Navigator: PRKAB2 (11 documents)

    Export disorders for PRKAB2 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)
    About This Section

    PubMed articles for PRKAB2 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with PRKAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variant screening of PRKAB2, a type 2 diabetes mellitus susceptibility candidate gene on 1q in Pima Indians. (PubMed id 12490143)1, 2, 4, 9 Prochazka M.... Bogardus C. (2002)
    2. Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. (PubMed id 16505254)1, 4, 9 Sun M.W....Florez J.C. (2006)
    3. Structural basis for AMP binding to mammalian AMP-activated protein kinase. (PubMed id 17851531)1, 2 Xiao B....Gamblin S.J. (2007)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Identification of a novel AMP-activated protein kinase beta subunit isoform that is highly expressed in skeletal muscle. (PubMed id 9575201)1, 2 Thornton C.... Carling D. (1998)
    8. Mammalian AMP-activated protein kinase subfamily. (PubMed id 8557660)1, 3 Stapleton D.... Kemp B.E. (1996)
    9. Association study between variants of AMP-activated pr otein kinase catalytic and regulatory subunit genes with antipsychotic-induced w eight gain. (PubMed id 22305490)1 Souza R.P....Muller D.J. (2012)
    10. AMP-activated protein kinase regulation and biological actions in the heart. (PubMed id 22935535)1 Zaha V.G. and Young L.H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5565 HGNC: 9379 AceView: PRKAB2 Ensembl:ENSG00000131791 euGenes: HUgn5565
    ECgene: PRKAB2 Kegg: 5565 H-InvDB: PRKAB2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRKAB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRKAB2 gene:
    Search GeneIP for patents involving PRKAB2

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



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    About This Section

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