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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
    Physical map
    FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503 hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 CNK2 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 FLJ34960 Xp22.13 hypothetical protein FLJ34960 SMPX Xp22.1 small muscle protein, X-linked MBTPS2 Xp22.1-p22.2 membrane-bound transcription factor protease, site 2 SMS Xp22.1 spermine synthase PHEX Xp22.2-p22.1 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) FLJ25735 Xp22.13 hypothetical protein FLJ25735
    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