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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
    Physical map
    PDE4DIP 1q12 phosphodiesterase 4D interacting protein (myomegalin) LOC388776 1 similar to AG02 LOC391202 1 similar to Tissue alpha-L-fucosidase precursor (Alpha-L-fucosidase I) (Alpha-L-fucoside fucohydrolase) LOC388763 1 similar to Ankrd3-prov protein LOC391208 1 similar to mCAF1 protein LOC388764 1 similar to hypothetical protein MGC3047 MTF1 1p34-p32 metal-regulatory transcription factor 1 DKFZp434K1323 1p36.33 CXYorf1-related protein LOC388570 1 similar to hypothetical protein CNR2 1p36.11 cannabinoid receptor 2 (macrophage) LOC391210 1 similar to Olfactory receptor 2T3 FLJ23550 1q23.3 hypothetical protein FLJ23550 LOC391205 1 similar to RIKEN cDNA B230396O12 DKFZp434D177-likLOC391204 LOC391204 1 similar to plectin LOC391211 1 similar to Olfactory receptor 2G3 MGC10334 1p36.33 hypothetical protein MGC10334 LOC388777 1 similar to hypothetical protein DJ328E19.C1.1 SH120 1p36.13-q31.3 putative G-protein coupled receptor MMP23B 1p36.3 matrix metalloproteinase 23B CDC2L2 1p36.33 cell division cycle 2-like 2 CDC2L1 1p36.33 cell division cycle 2-like 1 (PITSLRE proteins) LOC391201 1 similar to hypothetical protein FLJ10709 LOC391212 1 similar to Olfactory receptor 2T5 S100A3 1q21 S100 calcium binding protein A3 LOC391203 1 similar to 14.5 kDa translational inhibitor protein (p14.5) (UK114 antigen homolog) LOC388765 1 hypothetical gene supported by BK000152 LOC391209 1 similar to ribosomal protein L36; 60S ribosomal protein L36 PNRC2 1p36.11 proline-rich nuclear receptor coactivator 2 LOC391213 1 similar to seven transmembrane helix receptor LOC388766 1 hypothetical gene supported by BC059409; NM_022834 LOC388770 1 similar to TBP-associated factor 1A isoform 1; SL1, 48kD subunit FUSIP1 1p36.11 FUS interacting protein (serine-arginine rich) 1
    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