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FLASH GENE
Symbol PHKA2 contributors: mct - updated : 08-09-2011
HGNC name phosphorylase kinase, alpha 2 (liver)
HGNC id 8926
Corresponding disease
GSD6B glycogen storage disease, type VI/VIIIa
GSD9A glycogen storage disease, type IX A
Location Xp22.13      Physical location : 18.910.416 - 19.002.480
Synonym name
  • phosphorylase kinase deficiency, liver
  • phosphorylase b kinase regulatory subunit alpha liver isoform
    • Synonym symbol(s) PHK, PYK, XLG, PYKL, XLG2, KPB2, MGC133071, PHKLA
    EC.number 2.7.1.19
    DNA
    TYPE functioning gene
    STRUCTURE 92.07 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    33 - 5325 138 1235 - 1999 10330341
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunelymph node   highly
    Nervousnerve   highly
    Reproductivemale systemtestis  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure polymer of 16 chains, four each of alpha, beta, gamma, and delta
    mono polymer polymer
    HOMOLOGY
    interspecies homolog to murine Phka2
    Homologene
    FAMILY
  • phosphorylase b kinase regulatory chain family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the phosphorylation of serine in certain substrates
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycan biosynthesis
    a component
  • polymer of 16 chains, four each of alpha, beta, gamma, and delta ; alpha and beta are regulatory chains, gamma is
    • the catalytic chain, and delta is calmodulin
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulation by phosphorylation of various serine residues and by calcium
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD6B , GSD9A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS