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FLASH GENE
Symbol PDE4DIP contributors: mct - updated : 11-06-2010
HGNC name phosphodiesterase 4D interacting protein
HGNC id 15580
Location 1q21.1      Physical location : 144.851.427 - 145.076.186
Synonym name
  • myomegalin
  • cardiomyopathy associated 2
  • cardiomyopathy-associated protein 2
  • myomegalin-like protein
  • Synonym symbol(s) KIAA0454, KIAA0477, CMYA2, MMGL, MGC75440, DKFZp781J054
    DNA
    TYPE functioning gene
    STRUCTURE 224.65 kb     44 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure maybe 8 or 34 exons
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    44 - 8380 - 2346 - Soejima (2001)
  • isoform 1
  • 23 - 4833 - 969 - Soejima (2001)
  • isoform 2
  • 19 - 5355 - 1132 - Soejima (2001)
  • isoform 5
  • 7 - 1604 - 3 - Soejima (2001)
  • isoform 3
  • 4 - 1267 - 173 - Soejima (2001)
  • isoform 4
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain   lowly
     spinal cord    
    Reproductivefemale systemplacenta  lowly
     male systemprostate   
     male systemtestis   
    Respiratorylung    
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal highly
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text fetal heart, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one NBPF domain
  • secondary structure alpha helical and coiled coil structure
    HOMOLOGY
    interspecies homolog to rattus Pde4dip (78.8pc)
    homolog to Drosophila centrosomin cg5890
    homolog to murine Pde4dip (81.0pc)
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • co-localization of USH1G and myomegalin in photoreceptor cells in close association with microtubules
  • basic FUNCTION
  • anchor protein localizing components of the CAMP dependent pathway to the Golgi/centrosomal region of the cell
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targeting PDE4D to participate structures
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • a chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia (translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS