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

PHKG2 Gene

protein-coding   GIFtS: 66
GCID: GC16P030759

phosphorylase kinase, gamma 2 (testis)

 Explore 7 diseases affiliated with
PHKG2 via our new
 Human Malady Compendium 
Biological research products
for PHKG2
    

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

Aliases
Phosphorylase Kinase, Gamma 2 (Testis)1 2     GSD9C2 5
Phosphorylase Kinase Subunit Gamma-22 3     Phosphorylase B Kinase Gamma Catalytic Chain, Liver/Testis Isoform2
PHK-Gamma-LT1     Phosphorylase B Kinase Gamma Catalytic Chain, Testis/Liver Isoform2
PHK-Gamma-T1     Phosphorylase Kinase, Gamma 2 (Testis/Liver)2
PSK-C32 3     Serine/Threonine-Protein Kinase PHKG22
EC 2.7.11.193 8     EC 2.7.118

External Ids:    HGNC: 89311   Entrez Gene: 52612   Ensembl: ENSG000001568737   OMIM: 1724715   UniProtKB: P157353   

Export aliases for PHKG2 gene to outside databases

Previous GC identifers: GC16P030042 GC16P031248 GC16P030756 GC16P030795 GC16P030667 GC16P028322


(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 PHKG2:
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, encoded by two different genes. 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, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver
glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this
gene.(provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: PHKG2_HUMAN, P15735
Function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of
glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate
glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity)

Gene Wiki entry for PHKG2


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHKG2 gene promoter:
         Max1   Pax-5   Lmo2   AP-4   Cdc5   E2F   E2F-1   Ik-2   ARP-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHKG2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PHKG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHKG2


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

PHKG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHKG2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P030759:  view genomic region     (about GC identifiers)

Start:
30,759,591 bp from pter      End:
30,772,497 bp from pter
Size:
12,907 bases      Orientation:
plus 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: PHKG2_HUMAN, P15735 (See protein sequence)
Recommended Name: Phosphorylase b kinase gamma catalytic chain, liver/testis isoform  
Size: 406 amino acids; 46442 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
1 PDB 3D structure from and Proteopedia for PHKG2:
2Y7J (3D)    
Secondary accessions: A8K0C7 B4DEB7 E9PEU3 P11800
Alternative splicing: 2 isoforms:  P15735-1   P15735-2   

Explore the universe of human proteins at neXtProt for PHKG2: NX_P15735

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15735

  • 4/17 DME Specific Peptides for PHKG2 (P15735) (see all 17)
     RDPYALR  WACGVIL  GYGKEVD  LSEKETR 

    PHKG2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000285.1  NP_001165903.1  

    ENSEMBL proteins: 
     ENSP00000455607   ENSP00000455091   ENSP00000388571   ENSP00000329968   ENSP00000457359  
     ENSP00000454641   ENSP00000457194  
    Reactome Protein details: P15735
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--
    GO:0005964phosphorylase kinase complex TAS10487978


    PHKG2 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

    PHKG2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P15735

    ProtoNet protein and cluster: P15735

    1 Blocks protein family: IPB002291 Phosphorylase kinase family signature

    UniProtKB/Swiss-Prot: PHKG2_HUMAN, P15735
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


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

    Function Summary:

         UniProtKB/Swiss-Prot: PHKG2_HUMAN, P15735
    Function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of
    glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate
    glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity)
    Catalytic activity: 2 ATP + phosphorylase b = 2 ADP + phosphorylase a

         Genatlas biochemistry entry for PHKG2:
    phosphorylase kinase,isoform gamma 2,testis,liver and other tissues,glycogen catabolism

    Enzyme Numbers (IUBMB): EC 2.7.11.191 2 EC 2.7.112

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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity TAS10487978
    GO:0004689phosphorylase kinase activity TAS10487978
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding NAS--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----


    PHKG2 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for PHKG2:
     Decreased focal adhesion (FA)   Decreased mitotic index  Decreased substrate adherent c 


    (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 - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    Signal transduction_PKA signaling0.23
    Signal transduction_cAMP signaling0.44
    Signal transduction PKA signaling0.23
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    3Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)1.00
    Glycogen Metabolism0.35
    4Glucose metabolism
    Glucose metabolism1.00
    5Metabolism
    Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for PHKG2
        Signal transduction cAMP signaling
    Signal transduction PKA signaling

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PHKG2
        PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA
    Alpha-Adrenergic Signaling

    2 GeneGo (Thomson Reuters) Pathways for PHKG2
        Signal transduction cAMP signaling
    Signal transduction PKA signaling

    1 BioSystems Pathway for PHKG2 
        Glycogen Metabolism

    4        Reactome Pathways for PHKG2
        Metabolism of carbohydrates
    Glycogen breakdown (glycogenolysis)
    Metabolism
    Glucose metabolism


    2         Kegg Pathways  (Kegg details for PHKG2):
        Calcium signaling pathway
    Insulin signaling pathway


    PHKG2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHKG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/18 Interacting proteins for PHKG2 (P157353 ENSP000003299684) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHKG1Q168163, ENSP000002973734I2D: score=2 STRING: ENSP00000297373
    UBE3AQ050863, ENSP000003810454I2D: score=1 STRING: ENSP00000381045
    PHKA2ENSP000003692744STRING: ENSP00000369274
    PHKBENSP000003135044STRING: ENSP00000313504
    PYGLENSP000002163924STRING: ENSP00000216392
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005977glycogen metabolic process TAS8896567
    GO:0005978glycogen biosynthetic process IEA--
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--


    PHKG2 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

    PHKG2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PHKG2

    2 HMDB Compounds for PHKG2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    1 Novoseek chemical compound relationship for PHKG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 54.6 2 9384616 (1), 8896567 (1)

    Search CenterWatch for drugs/clinical trials and news about PHKG2 

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PHKG2 gene (2 alternative transcripts): 
    NM_000294.2  NM_001172432.1  

    Unigene Cluster for PHKG2:

    Phosphorylase kinase, gamma 2 (testis)
    Hs.65735  [show with all ESTs]
    Unigene Representative Sequence: NM_000294
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563588(uc021tgo.1 uc002dzk.2) ENST00000565924 ENST00000424889
    ENST00000564838 ENST00000328273 ENST00000563913 ENST00000565897 ENST00000563607
    ENST00000569762(uc002dzl.1) ENST00000569684 ENST00000561712

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    hsa-miR-206 hsa-miR-3673 hsa-miR-4251 hsa-miR-1237 hsa-miR-1 hsa-miR-223 hsa-miR-4314 hsa-miR-2355-5p
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    Additional cDNA sequence: 

    AB209055.1 AK055943.1 AK289492.1 AK293551.1 BC002541.2 M14503.1 M31606.1 

    21 DOTS entries:

    DT.40113268  DT.447728  DT.95241839  DT.120714203  DT.120714225  DT.97846037  DT.100797745  DT.91766646 
    DT.95241841  DT.99984344  DT.95269850  DT.120714004  DT.70103107  DT.91766651  DT.100730770  DT.120714177 
    DT.86853373  DT.91766648  DT.91946942  DT.99972962  DT.95269851 

    24/526 AceView cDNA sequences (see all 526):

    BU186404 BQ675195 BU145933 BM700215 BE739053 BX387296 BM541884 BI520337 
    BQ051446 BX644175 AA419088 BU176523 BM808047 BM724438 AA291854 AA588297 
    AA662809 BM543955 BU682683 H09771 BI858535 BX103840 AU140541 BU178824 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PHKG2 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b
    SP1:                          -                       -                                         -                                 
    SP2:                          -                       -                                                                           
    SP3:                          -                       -                             -     -     -                                 
    SP4:                                            -     -                                                                           
    SP5:                                                  -                                                                           


    ECgene alternative splicing isoforms for PHKG2

    (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

    PHKG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTGCATAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PHKG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHKG2

    SOURCE GeneReport for Unigene cluster: Hs.65735
        SABiosciences Expression via Pathway-Focused PCR Array including PHKG2: 
              Glucose Metabolism 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 animals.

    Orthologs for PHKG2 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia PHKG26
    --
    73(a)
    1 ↔ 1
    GL343516.1(95738-102493)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.104362 Xenopus laevis transcribed sequence with moderate similarity more 78.16(n)    CA974135.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558632 similar to phosphorylase kinase, gamma 2 (testis) 76.69(n)   393937  BC047191.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PhK&ggr;3
    PhKgamma1
    embryonic morphogenesis protein
    serine/threonine more3
    Phosphorylase kinase gamma1
    59(a)3
    57.86(n)1
    56.6(a)1
      1 10D53
    321201  NM_167296.21  NP_727548.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D7A.31 Protein Y50D7A.3 49.03(n)
    42.34(a)
      190101  NM_064780.3  NP_497181.2 


    ENSEMBL Gene Tree for PHKG2 (if available)
    TreeFam Gene Tree for PHKG2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHKG2 gene
    PHKG12  
    18/99 SIMAP similar genes for PHKG2 using alignment to 6 protein entries:     PHKG2_HUMAN (see all proteins) (see all similar genes):
    PHKG1    MAPK4    KSR1    CDK3    CDK12    MINK1
    MAPK7    CDK11B    BRSK2    AKT2    CDK10    MARK3
    PKN1    MAP2K4    TLK2    STK38L    NUAK1    MAPK3

    PHKG2 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

    10/298 NCBI SNPs in PHKG2 are shown (see all 298    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1427586611,2
    --30757681(+) CACCGC/TGCCCG 2 -- us2k10--------
    rs1880763901,2
    --30757721(+) TTGATG/TATTAT 2 -- us2k10--------
    rs1912761681,2
    --30757728(+) TTATTA/TTTTTT 2 -- us2k10--------
    rs1835442561,2
    --30757731(+) TTATTA/TTTTTT 2 -- us2k10--------
    rs1451832951,2
    --30757860(+) CAGGCA/GTGTGC 2 -- us2k10--------
    rs1885221201,2
    --30757936(+) CTCGAC/TCTGAC 2 -- us2k10--------
    rs1389486111,2
    --30758136(+) TTGACC/GTATGG 2 -- us2k10--------
    rs746929611,2
    F,--30758184(+) GCCCCG/ACTCAT 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs722651741,2
    C,--30758471(+) TCCCCATTC    
       CAG
    /-
    ATTCC
    2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs574974151,2
    C--30758476(+) ATTCC-/AG    
       ATTCC
    CACAG
    2 -- us2k11Minor allele frequency- AGATTCC:0.00NA 2

    HapMap Linkage Disequilibrium report for PHKG2 (30759591 - 30772497 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PHKG2
         2 CNVs: 30780 2209
         1 Indel: 102245
    Human Gene Mutation Database (HGMD): PHKG2

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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.)
    About This Section

    PHKG2 for disorders           About GeneDecksing

    OMIM gene information: 172471   
    OMIM disorders: 613027  
    UniProtKB/Swiss-Prot: PHKG2_HUMAN, P15735
  • Defects in PHKG2 are a cause of glycogen storage disease type 9C (GSD9C) [MIM:613027]. A metabolic disorder
  • manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma
    aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop
    hepatic fibrosis or cirrhosis

    7 diseases for PHKG2:    About MalaCards
    glycogen storage disease    cirrhosis due to liver phosphorylase kinase deficiency    hepatitis    metabolic disorders
    hypotonia    malaria    alcoholism

    1 disease from the University of Copenhagen DISEASES database for PHKG2:
    Glycogen storage disease

    2 Novoseek disease relationships for PHKG2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease 82.5 5 9384616 (2), 8896567 (2), 12930917 (1)
    cirrhosis 40.7 4 9384616 (2), 12930917 (1)


    Export disorders for PHKG2 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 PHKG2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with PHKG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. (PubMed id 2915644)1, 2, 3 Hanks S.K. (1989)
    2. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. (PubMed id 12930917)1, 2, 9 Burwinkel B....Kilimann M.W. (2003)
    3. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. (PubMed id 9384616)1, 2, 9 Burwinkel B.... Kilimann M.W. (1998)
    4. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. (PubMed id 8896567)1, 2, 9 Maichele A.J.... Kilimann M.W. (1996)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. (PubMed id 10487978)1, 2 Brushia R.J. and Walsh D.A. (1999)
    8. Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. (PubMed id 8020963)1, 3 Whitmore S.A....Callen D.F. (1994)
    9. Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. (PubMed id 2948189)1, 2 Hanks S.K. (1987)
    10. Glycogen storage disease type IX: High variability in clinical phenotype. (PubMed id 17689125)1, 9 Beauchamp N.J....Sharrard M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5261 HGNC: 8931 AceView: PHKG2andSRCAP Ensembl:ENSG00000156873 euGenes: HUgn5261
    ECgene: PHKG2 Kegg: 5261 H-InvDB: PHKG2

    (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 PHKG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PHKG2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKG2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PHKG2 gene:
    Search GeneIP for patents involving PHKG2

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



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