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

PHKB Gene

protein-coding   GIFtS: 64
GCID: GC16P047436

Phosphorylase Kinase, Beta

  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, Beta1 2
Phosphorylase Kinase Subunit Beta2 3
Phosphorylase B Kinase Regulatory Subunit Beta2
Phosphorylase Kinase Beta-Subunit2

External Ids:    HGNC: 89271   Entrez Gene: 52572   Ensembl: ENSG000001028937   OMIM: 1724905   UniProtKB: Q931003   

Export aliases for PHKB gene to outside databases

Previous GC identifers: GC16P037905 GC16P047235 GC16P047276 GC16P046052 GC16P033385


(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 PHKB 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, encoded by this gene, which is a member of the phosphorylase b kinase
regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of
liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in
this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.(provided by RefSeq, Feb 2010)

GeneCards Summary for PHKB Gene: 
PHKB (phosphorylase kinase, beta) is a protein-coding gene. Diseases associated with PHKB include phosphorylase kinase deficiency, and phosphorylase kinase deficiency of liver and muscle, autosomal recessive, and among its related super-pathways are Glycogen Metabolism and Activation of cAMP-Dependent PKA. GO annotations related to this gene include calmodulin binding and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is PHKA2.

UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100
Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin
I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to
phosphorylation

Gene Wiki entry for PHKB 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_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHKB gene promoter:
         Sox5   AML1a   FOXO3   FOXO3b   GATA-1   CREB   NRF-2   deltaCREB   Zic1   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHKB promoter sequence
   Search SABiosciences Chromatin IP Primers for PHKB

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


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

Entrez Gene cytogenetic band: 16q12-q13   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12-q13

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P047436:  view genomic region     (about GC identifiers)

Start:
47,495,034 bp from pter      End:
47,735,434 bp from pter
Size:
240,401 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: KPBB_HUMAN, Q93100 (See protein sequence)
Recommended Name: Phosphorylase b kinase regulatory subunit beta  
Size: 1093 amino acids; 124884 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
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Secondary accessions: Q8N4T5
Alternative splicing: 4 isoforms:  Q93100-1   Q93100-2   Q93100-3   Q93100-4   (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4)

Explore the universe of human proteins at neXtProt for PHKB: NX_Q93100

Explore proteomics data for PHKB at MOPED 

Post-translational modifications:

  • UniProtKB: Ser-701 is probably phosphorylated by PKA
  • UniProtKB: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is
    not methylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q93100

  • PHKB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PHKB Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000284.1  NP_001027005.1  

    ENSEMBL proteins: 
     ENSP00000455664   ENSP00000456729   ENSP00000299167   ENSP00000313504   ENSP00000457905  
     ENSP00000458581   ENSP00000460408   ENSP00000461770   ENSP00000458446   ENSP00000459287  
     ENSP00000458961   ENSP00000414345  
    Reactome Protein details: Q93100
    Human Recombinant Protein Products for PHKB: 
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    Novus Biologicals PHKB Protein
    Novus Biologicals PHKB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    PHKB for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


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

    Graphical View of Domain Structure for InterPro Entry Q93100

    ProtoNet protein and cluster: Q93100

    1 Blocks protein domain: IPB008734 Phosphorylase kinase alphabeta

    UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100
    Similarity: Belongs to the phosphorylase b kinase regulatory chain family


    PHKB 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: KPBB_HUMAN, Q93100
    Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin
    I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to
    phosphorylation
    Enzyme regulation: By phosphorylation of various serine residues (By similarity)

         Genatlas biochemistry entry for PHKB:
    phosphorylase kinase,beta subunit,ubiquitous,glycogen catabolism

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
    GO:0005515protein binding IPI--
    GO:0005516calmodulin binding IEA--
         
    PHKB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PHKB:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PHKB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PHKB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHKB 
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    miRNA
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    hsa-miR-411* hsa-miR-1178 hsa-miR-579 hsa-miR-448 hsa-miR-379* hsa-miR-3161 hsa-miR-1276 hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidPHKB 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKB


    (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 PHKB About   (see all 9)                                                                                              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

    1 EMD Millipore Pathway for PHKB
        Signal transduction PKA signaling

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

    1 GeneGo (Thomson Reuters) Pathway for PHKB
        Signal transduction PKA signaling

    1 BioSystems Pathway for PHKB
        Glycogen Metabolism

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


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

    UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100
    Pathway: Glycan biosynthesis; glycogen metabolism


    PHKB for pathways           About GeneDecksing

    Interactions:

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

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

    5/31 Interacting proteins for PHKB (Q931002, 3 ENSP000003135044) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PASKQ96RG22, 3, ENSP000002340404MINT-8145434 MINT-8148568 I2D: score=1 STRING: ENSP00000234040
    HNRNPCP079102, 3, ENSP000003196904MINT-67442 I2D: score=4 STRING: ENSP00000319690
    UBE3AQ050863, ENSP000003810454I2D: score=1 STRING: ENSP00000381045
    BRAFP150563, ENSP000002886024I2D: score=1 STRING: ENSP00000288602
    C20orf27Q9GZN83, ENSP000002171954I2D: score=4 STRING: ENSP00000217195
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005976polysaccharide metabolic process ----
    GO:0005977glycogen metabolic process TAS9402963
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--

    PHKB 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

    PHKB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PHKB (KPBB)

    1 Novoseek inferred chemical compound relationship for PHKB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 61.1 1 9384616 (1)

    Search CenterWatch for drugs/clinical trials and news about PHKB / KPBB

    (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 PHKB gene (2 alternative transcripts): 
    NM_000293.2  NM_001031835.2  

    Unigene Cluster for PHKB:

    Phosphorylase kinase, beta
    Hs.78060  [show with all ESTs]
    Unigene Representative Sequence: NM_001031835
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566037 ENST00000566044(uc010vgi.1) ENST00000299167(uc002eew.4)
    ENST00000323584 ENST00000566721 ENST00000565424 ENST00000567402 ENST00000563376
    ENST00000567200 ENST00000564873 ENST00000570047 ENST00000566436 ENST00000568439
    ENST00000568171 ENST00000566275 ENST00000566319 ENST00000564711 ENST00000455779(uc002eeu.4 uc002eev.4)

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKB (see all 21):
    hsa-miR-411* hsa-miR-1178 hsa-miR-579 hsa-miR-448 hsa-miR-379* hsa-miR-3161 hsa-miR-1276 hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidPHKB 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK123692.1 AK293122.1 AK309226.1 BC033657.1 X84908.1 

    21 DOTS entries:

    DT.445165  DT.100823842  DT.417371  DT.92435965  DT.75134954  DT.40120098  DT.317983  DT.317984 
    DT.120729193  DT.402632  DT.120729480  DT.99964727  DT.100651291  DT.120729159  DT.100027388  DT.102838732 
    DT.120729326  DT.75162294  DT.100876702  DT.40256510  DT.97806060 

    24/291 AceView cDNA sequences (see all 291):

    T17501 BU607583 BP376082 BM670690 AW936151 BQ183487 AA425198 CB136242 
    BU517285 F03093 BM661941 BU176575 AA830393 CA396799 BM990026 AA501617 
    BI822286 AI285180 AI362410 AI984354 AA476263 AA761334 R60882 X84908 

    GeneLoc Exon Structure

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

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                  -                                                                                                         
    SP2:        -                                         -                                                                                                         
    SP3:                                                                                                                                                            
    SP4:        -     -     -     -     -     -                                                                                                                     

    ExUns: 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
    SP1:  -     -                                                   
    SP2:        -     -                                             
    SP3:                                                            
    SP4:                                                            


    ECgene alternative splicing isoforms for PHKB

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.78060
        SABiosciences Expression via Pathway-Focused PCR Array including PHKB: 
              Glucose Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKB

    (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 PHKB gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phkb1 , 5 phosphorylase kinase beta1, 5 87.2(n)1
    92.15(a)1
      8 (41.61 cM)5
    1020931  NM_199446.11  NP_955517.11 
     858409595 
    chicken
    (Gallus gallus)
    Aves PHKB1 phosphorylase kinase, beta 78.79(n)
    84.77(a)
      415741  NM_001007831.1  NP_001007832.1 
    lizard
    (Anolis carolinensis)
    Reptilia PHKB6
    phosphorylase kinase, beta
    84(a)
    1 ↔ 1
    LGc(2994956-3153779)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.170572 Transcribed sequence with moderate similarity to protein spQ93100 (H.sapiens) KPBB_HUMAN Phosphorylase B kinase beta regulatory chain (Phosphorylase kinase beta subunit) less 76.41(n)    BX737662.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5697061 phosphorylase b kinase regulatory subunit beta-like less 70.82(n)
    78.02(a)
      569706  XM_693105.5  XP_698197.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84751 , 3 phosphorylase kinase, regulator3
    CG84751
    46(a)3
    52.1(n)1
    48.74(a)1
      28F13
    341141  NM_135345.21  NP_609189.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D8A.11 , 3 hypothetical protein1 38(a)3
    49.52(n)1
    42.25(a)1
      IV(3225612-3251865)3
    1770941  NM_067903.41  NP_500304.31 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHKB gene
    PHKA22  PHKA12  
    1 SIMAP similar gene for PHKB using alignment to 9 protein entries:     KPBB_HUMAN (see all proteins):
    PHKA1

    PHKB for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PHKB
    PGOHUM00000247772 PGOHUM00000247439


    (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

    10/3727 SNPs in PHKB are shown (see all 3727)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364864
    A breast cancer sample4--see VAR_0364862 L V mis40--------
    VAR_0155364
    Glycogen storage disease 9B (GSD9B)4--see VAR_0155362 A P mis40--------
    VAR_0364874
    A breast cancer sample4--see VAR_0364872 G R mis40--------
    rs562578271,2
    C,Fpathogenic148560573(+) GAAATG/TATTTC 4 M I mis13Minor allele frequency- T:0.01NA EU 5980
    rs1219180211,2
    Cpathogenic148641440(+) GAATAA/TGAAAA 4 * Y stg10--------
    rs346673481,2,4
    C,Fpathogenic148695930(+) GTCTAA/C/TAGGTA 6 K Q * mis1 stg15NA EU 5890
    rs1117344071,2
    Cpathogenic148741419(+) CCATGC/TATGAG 4 H Y mis11Minor allele frequency- T:0.50CSA 2
    rs1999480781,2
    Cpathogenic148741422(+) TGTATG/TAGATG 4 E * stg10--------
    rs1381690311,2
    Cuntested148695690(+) ACAGTA/GAGCCC 2 -- int10--------
    rs169454741,2,4
    C,F,Huntested148708718(+) AGTCTA/GTAGAA 4 Y C mis1 ese320Minor allele frequency- G:0.07NA NS EA WA CSA EU 7172

    HapMap Linkage Disequilibrium report for PHKB (47495034 - 47735434 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PHKB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv520355CNV Gain19592680
    nsv833217CNV Gain17160897
    nsv525976CNV Gain19592680
    esv34317CNV Gain17911159
    dgv887e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): PHKB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PHKB
    DNA2.0 Custom Variant and Variant Library Synthesis for PHKB

    (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: 172490   
    OMIM disorders: 261750  
    UniProtKB/Swiss-Prot: KPBB_HUMAN, Q93100
  • Glycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly,
    only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably
    no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an
    incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 8 diseases for PHKB:    About MalaCards
    phosphorylase kinase deficiency    phosphorylase kinase deficiency of liver and muscle, autosomal recessive    phkb-related phosphorylase kinase deficiency    muscle glycogenosis
    glycogen storage disease    hepatitis    hypoglycemia    metabolic disorders

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

    PHKB for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PHKB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease 88.3 4 9402963 (1), 9384616 (1), 9215682 (1)

    Genetic Association Database (GAD): PHKB
    Human Genome Epidemiology (HuGE) Navigator: PHKB (2 documents)

    Export disorders for PHKB 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 PHKB gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with PHKB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). (PubMed id 9402963)1, 2, 4, 9 Burwinkel B.... Kilimann M.W. (1997)
    2. Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). (PubMed id 8681948)1, 2, 9 Wuellrich-Schmoll A. and Kilimann M.W. (1996)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. 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)
    5. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PubMed id 12825073)1, 2 Burwinkel B.... Kilimann M.W. (2003)
    6. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). (PubMed id 9326319)1, 2 van den Berg I.E.T.... Berger R. (1997)
    7. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (PubMed id 9215682)1, 9 Burwinkel B....Kilimann M.W. (1997)
    8. Glycogen storage disease type IX: High variability in clinical phenotype. (PubMed id 17689125)1, 9 Beauchamp N.J....Sharrard M. (2007)
    9. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. (PubMed id 9533876)1, 9 Burwinkel B. and Kilimann M.W. (1998)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (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: 5257 HGNC: 8927 AceView: PHKB Ensembl:ENSG00000102893 euGenes: HUgn5257
    ECgene: PHKB Kegg: 5257 H-InvDB: PHKB

    (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 PHKB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKB

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

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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