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

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

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 phkg2-related phosphorylase kinase deficiency, and phosphorylase kinase deficiency, and among its related super-pathways are Glycogen Metabolism and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein serine/threonine kinase activity and tau-protein kinase activity. An important paralog of this gene is PNCK.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for PHKG2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PHKG2 Protein Expression
    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 for PHKG2: 
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    Browse Proteins at Cloud-Clone Corp. 

    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:0005829cytosol TAS--
    GO:0005964phosphorylase kinase complex TAS10487978
    GO:0016020membrane ----

    PHKG2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: phosphorylase kinase, gamma 2 (testis) 
    Phosphorylase Kinase (PHK) family

    5/7 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_cat_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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (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:
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    SwitchGear 3'UTR luciferase reporter plasmidPHKG2 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PHKG2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycogen breakdown (glycogenolysis)
    Glycogen breakdown (glycogenolysis)0.34
    Glycogen Metabolism0.34
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Signal transduction PKA signaling
    Signal transduction PKA signaling1.00
    4Glucose metabolism
    Glucose metabolism0.50
    5MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/10 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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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    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)

    Search CenterWatch for drugs/clinical trials and news about PHKG2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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 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 

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

    BQ066373 BQ711912 AA251790 BM922293 BM794869 BQ012700 AA912008 BC025284 
    BU541177 BI520337 BX387296 BE739053 BM541884 BM700215 BU186404 BU145933 
    BM543955 AA419088 BU682683 BQ675195 H09771 BI858535 BX103840 AU140541 

    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)      PHKG2 embryonic expression: see
    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 
     5/2 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)

    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 and fungi.

    Orthologs for PHKG2 gene from 7/15 species (see all 15)    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)
    73(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 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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CMK16
    CMK26
    Calmodulin-dependent protein kinase; may play a ro...
    Calmodulin-dependent protein kinase; may play a ro...
    24(a)
    21(a)
    many ↔ many
    many ↔ many
    VI(172537-173877)
    XV(294777-296120)


    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
    PNCK2  CAMK1G2  PSKH22  CAMK2A2  CAMK1D2  PSKH12  CAMK42  CAMK2D2  
    PHKG12  CAMKV2  CAMK2G2  CAMK2B2  CAMK12  
    18/96 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    MAP2K4    TLK2    STK38L    DAPK3

    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) 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

    10/475 SNPs in PHKG2 are shown (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--------
    VAR_0409964
    ----see VAR_0409962 A T 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

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 7 diseases for PHKG2:    About MalaCards
    phkg2-related phosphorylase kinase deficiency    phosphorylase kinase deficiency    glycogen storage disease    hypotonia
    hepatitis    metabolic disorders    alcoholism

    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)
    About This Section

    PubMed articles for PHKG2 gene, integrated from 9 sources (see all 23):
    (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
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      Query String
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    (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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    About This Section

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