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PHKG2 Gene

protein-coding   GIFtS: 68
GCID: GC16P030759

Phosphorylase Kinase, Gamma 2 (Testis)

  See 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, Gamma 2 (Testis)1 2     GSD9C2 5
Phosphorylase Kinase Subunit Gamma-22 3     Phosphorylase B Kinase Gamma Catalytic Chain, Liver/Testis Isoform2
PHK-gamma-LT2 3     Phosphorylase B Kinase Gamma Catalytic Chain, Testis/Liver Isoform2
PHK-gamma-T2 3     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHKG2 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, 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)

GeneCards Summary for PHKG2 Gene:
PHKG2 (phosphorylase kinase, gamma 2 (testis)) is a protein-coding gene. Diseases associated with PHKG2 include cirrhosis due to liver phosphorylase kinase deficiency, and phkg2-related phosphorylase kinase deficiency. GO annotations related to this gene include protein serine/threonine kinase activity and tau-protein kinase activity. An important paralog of this gene is PHKG1.

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 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:
NC_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for PHKG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: 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

Explore proteomics data for PHKG2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PHKG2 (P15735) (see all 17)
     RDPYALR  WACGVIL  GYGKEVD  LSEKETR 


    See PHKG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000455607   ENSP00000455091   ENSP00000388571   ENSP00000329968   ENSP00000457359  
     ENSP00000454641   ENSP00000457194  
    Reactome Protein details: P15735

    PHKG2 Human Recombinant Protein Products:

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    Novus Biologicals PHKG2 Proteins
    Novus Biologicals PHKG2 Lysates
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    Browse Proteins at Cloud-Clone Corp.

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    (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: phosphorylase kinase, gamma 2 (testis)
    Phosphorylase Kinase (PHK) family

    Selected InterPro protein domains (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_dom

    Graphical View of Domain Structure for InterPro Entry P15735

    ProtoNet protein and cluster: P15735

    1 Blocks protein domain: 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


    PHKG2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity TAS10487978
    GO:0004689phosphorylase kinase activity TAS10487978
    GO:0004713protein tyrosine kinase activity ----
    GO:0005516calmodulin binding IEA--
         
    PHKG2 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHKG2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHKG2
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    miRNA
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    hsa-mir-138-5p (MIRT045827), hsa-mir-615-3p (MIRT040308)

    Block miRNA regulation of human, mouse, rat PHKG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHKG2 (see all 11):
    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
    SwitchGear 3'UTR luciferase reporter plasmidPHKG2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PHKG2

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    GenScript: all cDNA clones in your preferred vector (see all 2): PHKG2 (NM_000294)
    Sino Biological Human cDNA Clone for PHKG2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKG2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKG2


    (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
    nucleus2
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--
    GO:0005964phosphorylase kinase complex TAS10487978
    GO:0016020membrane ----

    PHKG2 for ontologies           About GeneDecksing


    (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 PHKG2 About   (see all 10)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for PHKG2
        Glycogen breakdown (glycogenolysis)


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


    PHKG2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PHKG2: 
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PHKG2

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

    Selected Interacting proteins for PHKG2 (P157353 ENSP000003299684) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHKG1Q168163, ENSP000002973734I2D: score=2 STRING: ENSP00000297373
    UBE3AQ050863, ENSP000003810454I2D: score=1 STRING: ENSP00000381045
    PYGLENSP000002163924STRING: ENSP00000216392
    CALM1ENSP000003494674STRING: ENSP00000349467
    CALML3ENSP000003152994STRING: ENSP00000315299
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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, 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 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 inferred 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)



    PHKG2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR Assays for microRNAs that regulate PHKG2 (see all 11):
    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
    SwitchGear 3'UTR luciferase reporter plasmidPHKG2 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): PHKG2 (NM_000294)
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      QuantiFast Probe-based Assays in human, mouse, rat PHKG2

    Additional mRNA sequence: 

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

    19 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.91766648  DT.91946942  DT.99972962 

    Selected AceView cDNA sequences (see all 526):

    BI765014 BQ708478 BU956811 AA912008 BX103840 CB108018 BQ012700 BU629545 
    BE266406 CR596608 AA614301 AI096921 AA291854 BQ446186 AF143946 BC063578 
    BC025284 BM672351 NM_006662 CR621603 BQ051446 AA332227 BI858535 BQ935547 

    GeneLoc Exon Structure

    Selected 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™, 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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    PHKG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTGCATAT
    PHKG2 Expression
    About this image


    PHKG2 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
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Testis (Reproductive System)
    PHKG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHKG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65735
        Pathway & Disease-focused RT2 Profiler PCR Array including PHKG2: 
              Glucose Metabolism in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PHKG2
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    QuantiFast Probe-based Assays in human, mouse, rat PHKG2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKG2

    (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 PHKG2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phkg21 , 5 phosphorylase kinase, gamma 2 (testis)1, 5 89.6(n)1
    94.06(a)1
      7 (69.60 cM)5
    689611  NM_026888.31  NP_081164.21 
     1275733405 
    lizard
    (Anolis carolinensis)
    Reptilia PHKG26
    phosphorylase kinase, gamma 2 (testis)
    74(a)
    1 ↔ 1
    GL343516.1(96060-104532)
    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 PhKgamma1 , 3 embryonic morphogenesis protein
    serine/threonine more3
    Phosphorylase kinase gamma1
    59(a)3
    57.95(n)1
    56.6(a)1
      1 10D53
    321201  NM_167296.21  NP_727548.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D7A.31 Y50D7A.3 49.15(n)
    41.55(a)
      190101  NM_064780.4  NP_497181.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DUN16
    Cell-cycle checkpoint serine-threonine kinase requ...
    21(a)
    1 → many
    IV(280307-281848) YDL101C


    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)
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    Paralogs for PHKG2 gene
    PHKG12  
    Selected 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    CDK1
    MINK1    MAPK7    CDK11B    BRSK2    AKT2    CDK10
    MARK3    PKN1    TLK2    STK38L    DAPK3    NUAK1

    PHKG2 for paralogs           About GeneDecksing



    (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 PHKG2 (see all 475)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0208554
    Glycogen storage disease 9C (GSD9C)4--see VAR_0208552 D N mis40--------
    VAR_0208544
    Glycogen storage disease 9C (GSD9C)4--see VAR_0208542 E K mis40--------
    VAR_0095174
    Glycogen storage disease 9C (GSD9C)4--see VAR_0095172 V E mis40--------
    VAR_0095184
    Glycogen storage disease 9C (GSD9C)4--see VAR_0095182 G E mis40--------
    rs1138550681,2
    C--30760427(+) TGCTGC/GTGCTG 2 -- int10--------
    rs1473451601,2
    C--30760525(+) TGGTG-/GTGTGTG 2 -- int10--------
    rs718505431,2
    C--30760526(+) GGTGG-/GTTGTGT 2 -- int10--------
    rs668201671,2
    C--30760602(+) GTGTC-/TGTGTGT 2 -- int10--------
    rs678309781,2
    C--30762102(+) TTAGA-/TCTT  
            
    TCTTT
    2 -- int11Minor allele frequency- TCTT:0.00CSA 2
    rs105772071,2
    C--30762104(+) CTTTC-/TTTC  
            
    CCCTT
    2 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for PHKG2 (30759591 - 30772497 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PHKG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714189CNV Deletion23290073
    esv2714190CNV Deletion23290073
    esv2438502CNV Insertion19546169
    nsv905729CNV Loss21882294
    nsv469724CNV Loss16826518
    nsv905728CNV Loss21882294
    nsv833188CNV Loss17160897
    nsv9438CNV Gain18304495

    Human Gene Mutation Database (HGMD): PHKG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHKG2
    DNA2.0 Custom Variant and Variant Library Synthesis for PHKG2

    (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: 172471   
    OMIM disorders: 613027  
    UniProtKB/Swiss-Prot: PHKG2_HUMAN, P15735
  • Glycogen storage disease 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for PHKG2:    
    About MalaCards
    cirrhosis due to liver phosphorylase kinase deficiency    phkg2-related phosphorylase kinase deficiency    glycogen storage disease ixc    glycogen storage disease, type ixa1
    phosphorylase kinase deficiency    glycogen storage disease    hepatitis    hypotonia
    malaria    multiple myeloma    myeloma

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

    PHKG2 for disorders           About GeneDecksing

    2 Novoseek inferred 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)
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    PubMed articles for PHKG2 gene, integrated from 10 sources (see all 24):
    (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. (Mol. Endocrinol. 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. (Pediatr. Res. 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. (Hum. Mol. Genet. 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. (Nat. Genet. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Front. Biosci. 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. (Genomics 1994)
    9. Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. (PubMed id 2948189)1, 2 Hanks S.K. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    10. Glycogen storage disease type IX: High variability in clinical phenotype. (PubMed id 17689125)1, 9 Beauchamp N.J....Sharrard M. (Mol. Genet. Metab. 2007)

    (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: 5261 HGNC: 8931 AceView: PHKG2andSRCAP Ensembl:ENSG00000156873 euGenes: HUgn5261
    ECgene: PHKG2 Kegg: 5261 H-InvDB: PHKG2

    (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)
    About This Section

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    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/books/NBK1116/?term=PHKG2[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 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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