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PHKA2 Gene

protein-coding   GIFtS: 69
GCID: GC0XM018910

Phosphorylase Kinase, Alpha 2 (Liver)


(Previous symbols: PHK, PYK)
  See PHKA2-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
Phosphorylase Kinase, Alpha 2 (Liver)1 2     XLG2 5
PYK1 2 3     XLG22
PHK1 2 5     Phosphorylase B Kinase Regulatory Subunit Alpha Liver Isoform2
Phosphorylase Kinase Alpha L Subunit2 3     Phosphorylase B Kinase Regulatory Subunit Alpha, Liver Isoform2
GSD9A2 5     Phosphorylase Kinase Alpha-Subunit2
PYKL2 5     PHKLA3

External Ids:    HGNC: 89261   Entrez Gene: 52562   Ensembl: ENSG000000444467   OMIM: 3007985   UniProtKB: P460193   

Export aliases for PHKA2 gene to outside databases

Previous GC identifers: GC0XM018454 GC0XM017577 GC0XM018112 GC0XM018272 GC0XM018670 GC0XM018820 GC0XM016663


(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 PHKA2 Gene:
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit
includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta
subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also
includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is
a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the
enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta
subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen
storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants
have been reported, but the full-length nature of these variants has not been determined.(provided by RefSeq, Feb
2010)

GeneCards Summary for PHKA2 Gene:
PHKA2 (phosphorylase kinase, alpha 2 (liver)) is a protein-coding gene. Diseases associated with PHKA2 include glycogen storage disease, type ixa1, and phka2-related phosphorylase kinase deficiency. GO annotations related to this gene include phosphorylase kinase activity and calmodulin binding. An important paralog of this gene is PHKA1.

UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019
Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin
I. The alpha chain may bind calmodulin

Gene Wiki entry for PHKA2 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_000023.10  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHKA2 gene promoter:
         MEF-2A   POU2F1   POU2F1a   NRSF form 1   aMEF-2   NRSF form 2   GATA-1   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHKA2 promoter sequence
   Search Chromatin IP Primers for PHKA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHKA2


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

Entrez Gene cytogenetic band: Xp22.2-p22.1   Ensembl cytogenetic band:  Xp22.13   HGNC cytogenetic band: Xp22.2-p22.1

PHKA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHKA2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM018910:  view genomic region     (about GC identifiers)

Start:
18,910,416 bp from pter      End:
19,002,716 bp from pter
Size:
92,301 bases      Orientation:
minus strand

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019 (See protein sequence)
Recommended Name: Phosphorylase b kinase regulatory subunit alpha, liver isoform  
Size: 1235 amino acids; 138408 Da
Subunit: Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1
or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is
calmodulin
Secondary accessions: A8K1T1 Q6LAJ5 Q7Z6W0 Q96CR3 Q9UDA1

Explore the universe of human proteins at neXtProt for PHKA2: NX_P46019

Explore proteomics data for PHKA2 at MOPED

Post-translational modifications: 

  • Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is
    not methylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHKA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000283.1  
    ENSEMBL proteins: 
     ENSP00000369274  
    Reactome Protein details: P46019

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PHKA2 

     
    antibodies-online proteins for PHKA2 (4 products) 

     
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    antibodies-online antibodies for PHKA2 (13 products) 

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    antibodies-online kits for PHKA2 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR008734 PHK_A/B_su
     IPR011613 Glyco_hydro_15
     IPR012341 6hp_glycosidase
     IPR008928 6-hairpin_glycosidase-like

    Graphical View of Domain Structure for InterPro Entry P46019

    ProtoNet protein and cluster: P46019

    1 Blocks protein domain: IPB008734 Phosphorylase kinase alphabeta

    UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019
    Similarity: Belongs to the phosphorylase b kinase regulatory chain family


    Find genes that share domains with PHKA2           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: KPB2_HUMAN, P46019
    Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin
    I. The alpha chain may bind calmodulin
    Enzyme regulation: By phosphorylation of various serine residues and by calcium

         Genatlas biochemistry entry for PHKA2:
    phosphorylase kinase,alpha 2 subunit,liver,glycogen catabolism

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
    GO:0004689phosphorylase kinase activity TAS7549948
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with PHKA2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PHKA2:
     Increased apoptosis  Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target PHKA2:
    hsa-mir-149-5p (MIRT045484), hsa-mir-26b-5p (MIRT030297)

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    7 qRT-PCR Assays for microRNAs that regulate PHKA2:
    hsa-miR-668 hsa-miR-320e hsa-miR-3130-3p hsa-miR-1324 hsa-miR-597 hsa-miR-138-2* hsa-miR-592
    SwitchGear 3'UTR luciferase reporter plasmidPHKA2 3' UTR sequence
    Inhib. RNA
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    (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 UniProtKB/Swiss-Prot
    KPB2_HUMAN, P46019: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0005964phosphorylase kinase complex IEA--

    Find genes that share ontologies with PHKA2           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 PHKA2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    3MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    4G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    5fMLP Pathway
    Alpha-Adrenergic Signaling0.38


    Find genes that share SuperPaths with PHKA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PHKA2
        PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA
    Alpha-Adrenergic Signaling

    1 GeneGo (Thomson Reuters) Pathway for PHKA2
        Signal transduction cAMP signaling

    1 BioSystems Pathway for PHKA2
        Glycogen Metabolism

    1 Reactome Pathway for PHKA2
        Glycogen breakdown (glycogenolysis)


    2 Kegg Pathways  (Kegg details for PHKA2):
        Calcium signaling pathway
    Insulin signaling pathway

    UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019
    Pathway: Glycan biosynthesis; glycogen metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PHKA2
    Interactions:

        Search GeneGlobe Interaction Network for PHKA2

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

    Selected Interacting proteins for PHKA2 (P460192, 3 ENSP000003692744) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62134 I2D: score=3 
    UBE3AQ050863, ENSP000003810454I2D: score=1 STRING: ENSP00000381045
    RAF1P040493, ENSP000002518494I2D: score=1 STRING: ENSP00000251849
    LMLNQ96KR43I2D: score=5 
    METTL13Q8N6R03I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005976polysaccharide metabolic process ----
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006091generation of precursor metabolites and energy TAS7549948

    Find genes that share ontologies with PHKA2           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 PHKA2 (KPB2)

    1 HMDB Compound for PHKA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    9 Novoseek inferred chemical compound relationships for PHKA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 74.6 35 15362101 (3), 11796108 (2), 17667862 (2), 7874115 (1) (see all 24)
    pyruvate 32.8 4 16540430 (1), 20502716 (1), 19149159 (1), 1618087 (1)
    curcumin 27.7 5 7511111 (4), 11069500 (1)
    proline 19.3 1 15362101 (1)
    tyrosine 2.29 3 10454193 (1), 20020888 (1), 10545198 (1)
    atp 0 3 11069500 (1)
    glucose 0 1 10987651 (1)
    calcium 0 3 11069500 (1), 15362101 (1)
    adp 0 2 10333288 (1), 10545198 (1)



    Find genes that share compounds with PHKA2           About GenesLikeMe



    (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 PHKA2 gene: 
    NM_000292.2  

    Unigene Cluster for PHKA2:

    Phosphorylase kinase, alpha 2 (liver)
    Hs.54941  [show with all ESTs]
    Unigene Representative Sequence: NM_000292
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379942(uc010nfe.1 uc010nff.1 uc010nfg.1 uc010nfh.1 uc010nfi.1 uc004cyv.4)
    ENST00000481718 ENST00000469485 ENST00000473597 ENST00000473739 ENST00000469645
    ENST00000486231 ENST00000464455
    miRNA
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    hsa-miR-668 hsa-miR-320e hsa-miR-3130-3p hsa-miR-1324 hsa-miR-597 hsa-miR-138-2* hsa-miR-592
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    Additional mRNA sequence: 

    AK289996.1 AY429559.1 AY429560.1 AY429561.1 AY429562.1 AY429563.1 BC014036.2 BC114375.1 
    D38616.1 X73875.1 X80497.1 

    23 DOTS entries:

    DT.446566  DT.92430803  DT.100789679  DT.92416042  DT.100705317  DT.100702790  DT.100789672  DT.102821389 
    DT.102821391  DT.121302893  DT.40243283  DT.121302817  DT.40286564  DT.95346925  DT.100789673  DT.100789674 
    DT.121302873  DT.203273  DT.435935  DT.86854707  DT.75176067  DT.86842544  DT.91672485 

    Selected AceView cDNA sequences (see all 196):

    BX108037 AL043131 BM793818 BE502326 AY429561 AI990733 CK299861 AI963745 
    BQ718618 NM_000292 BQ008354 AA292806 BQ954782 AU122420 BX508195 AA425540 
    BU074207 C00108 AA426171 BQ773239 BP358952 AK092480 X80497 D38616 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PHKA2 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
    SP1:                                                                                                                                -                           
    SP2:                                                                                                                                                            
    SP3:                                                        -                                                                                                   
    SP4:                                                                                                                                                            
    SP5:        -                                                                                                                                                   

    ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35a · 35b · 35c ^ 36 ^ 37a · 37b · 37c · 37d
    SP1:                                                        -                       -     -     -           -     -                                       
    SP2:                                                        -                             -     -           -     -                                       
    SP3:                                                                                                                                                      
    SP4:                                                                    -     -     -     -     -                                                         
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for PHKA2

    (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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    PHKA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTTCCAGG
    PHKA2 Expression
    About this image


    PHKA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Gonad
             Spermatid Seminiferous Tubules
    PHKA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHKA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.54941

    UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019
    Tissue specificity: Predominantly expressed in liver and other non-muscle tissues

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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.

    Orthologs for PHKA2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phka21 , 5 phosphorylase kinase alpha 21, 5 87.18(n)1
    90.85(a)1
      X (73.95 cM)5
    1100941  NM_001177879.11  NP_001171350.11 
     1605021665 
    chicken
    (Gallus gallus)
    Aves PHKA21 phosphorylase kinase, alpha 2 (liver) 75.6(n)
    81.56(a)
      418612  XM_004934687.1  XP_004934744.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHKA26
    phosphorylase kinase, alpha 2 (liver)
    82(a)
    1 ↔ 1
    3(123150448-123218849)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia phka21 phosphorylase kinase, alpha 2 (liver) 72.1(n)
    78.33(a)
      100498261  XM_004911663.1  XP_004911720.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5561991 phosphorylase b kinase regulatory subunit alpha, liver isoform-like less 70.05(n)
    75.1(a)
      556199  XM_678952.6  XP_684044.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77661 , 3 phosphorylase kinase, regulator3
    CG77661
    51(a)3
    58.84(n)1
    57.13(a)1
      318391  NM_001144708.21  NP_001138180.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C14B9.81 , 3 Phosphorylase kinase3
    C14B9.81
    42(a)3
    49.41(n)1
    44.95(a)1
      III(8211651-8216537)3
    1761491  NM_066376.51  NP_498777.21 


    ENSEMBL Gene Tree for PHKA2 (if available)
    TreeFam Gene Tree for PHKA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHKA2 gene
    PHKA12  PHKB2  
    1 SIMAP similar gene for PHKA2 using alignment to 2 protein entries:     KPB2_HUMAN (see all proteins):
    PHKA1

    Find genes that share paralogs with PHKA2           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 PHKA2 (see all 1452)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0061814
    Glycogen storage disease 9A (GSD9A)4--see VAR_0061812 R H mis40--------
    VAR_0623944
    Glycogen storage disease 9A (GSD9A)4--see VAR_0623942 P L mis40--------
    VAR_0122734
    Glycogen storage disease 9A (GSD9A)4--see VAR_0122732 P S mis40--------
    VAR_0061864
    Glycogen storage disease 9A (GSD9A)4--see VAR_0061862 P L mis40--------
    VAR_0061834
    Glycogen storage disease 9A (GSD9A)4--see VAR_0061832 D G mis40--------
    VAR_0623954
    Glycogen storage disease 9A (GSD9A)4--see VAR_0623952 P R mis40--------
    VAR_0122764
    Glycogen storage disease 9A (GSD9A)4--see VAR_0122762 E K mis40--------
    VAR_0122694
    Glycogen storage disease 9A (GSD9A)4--see VAR_0122692 K E mis40--------
    VAR_0061804
    Glycogen storage disease 9A (GSD9A)4--see VAR_0061802 R C mis40--------
    VAR_0122714
    Glycogen storage disease 9A (GSD9A)4--see VAR_0122712 G V mis40--------

    HapMap Linkage Disequilibrium report for PHKA2 (18910416 - 19002716 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PHKA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6823CNV Insertion18451855
    nsv508754CNV Insertion20534489
    esv33517CNV Loss17666407
    esv2752317CNV Gain17911159

    Human Gene Mutation Database (HGMD): PHKA2
    Locus Specific Mutation Databases (LSDB): PHKA2

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 300798   
    OMIM disorders: 306000  
    UniProtKB/Swiss-Prot: KPB2_HUMAN, P46019
  • Glycogen storage disease 9A (GSD9A) [MIM:306000]: A metabolic disorder resulting in a mild liver
    glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of
    glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia,
    hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no
    phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase
    activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage
    disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults.
    Accurate diagnosis is therefore also of prognostic interest. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 9 diseases for PHKA2:    
    About MalaCards
    glycogen storage disease, type ixa1    phka2-related phosphorylase kinase deficiency    glycogen storage disease, type ixa2    x-linked liver glycogenosis type 1
    phosphorylase kinase deficiency    muscle glycogenosis    coffin-lowry syndrome    retinoschisis
    glycogen storage disease

    2 diseases from the University of Copenhagen DISEASES database for PHKA2:
    Glycogen storage disease     Retinoschisis

    Find genes that share disorders with PHKA2           About GenesLikeMe

    4 Novoseek inferred disease relationships for PHKA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease 91.7 36 9402963 (3), 12825073 (3), 9600238 (2), 1372435 (2) (see all 20)
    glycogen storage disease type i 63.3 2 7711737 (1), 10330341 (1)
    myopathy 33.8 8 15637709 (2), 20080404 (2), 9731190 (1), 18401027 (1)
    cirrhosis 8.82 3 9384616 (2)

    Genetic Association Database (GAD): PHKA2
    Human Genome Epidemiology (HuGE) Navigator: PHKA2 (1 document)

    Export disorders for PHKA2 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 PHKA2 gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with PHKA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II. (PubMed id 10330341)1, 2, 9 Hendrickx J.... Willems P.J. (Am. J. Hum. Genet. 1999)
    2. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). (PubMed id 8733134)1, 2, 9 Burwinkel B.... Kilimann M.W. (Hum. Mol. Genet. 1996)
    3. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. (PubMed id 8733133)1, 2, 9 Hendrickx J.... Willems P.J. (Hum. Mol. Genet. 1996)
    4. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. (PubMed id 7549948)1, 2, 9 Hirono H.... Takada G. (Biochem. Mol. Biol. Int. 1995)
    5. X-linked liver glycogenosis: localization and isolation of a candidate gene. (PubMed id 8518797)1, 2, 9 Hendrickx J.... Berthelot J. (Hum. Mol. Genet. 1993)
    6. Glycogen storage disease type IX: High variability in clinical phenotype. (PubMed id 17689125)1, 2, 9 Beauchamp N.J....Sharrard M. (Mol. Genet. Metab. 2007)
    7. X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. (PubMed id 7847371)1, 2, 9 van den Berg I.E.T....Berger R. (Am. J. Hum. Genet. 1995)
    8. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. (PubMed id 9600238)1, 2, 9 Burwinkel B.... Kilimann M.W. (Hum. Genet. 1998)
    9. The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. (PubMed id 8226841)1, 2, 9 Wuellrich A.... Kilimann M.W. (J. Biol. Chem. 1993)
    10. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)

    (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: 5256 HGNC: 8926 AceView: PHKA2 Ensembl:ENSG00000044446 euGenes: HUgn5256
    ECgene: PHKA2 Kegg: 5256 H-InvDB: PHKA2

    (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 PHKA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PHKA2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHKA2[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 PHKA2 gene:
    Search GeneIP for patents involving PHKA2

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



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