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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
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Don't let the Atlas imminent demise
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PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))


Other namesCMYA2
LocusID (NCBI) 9659
Location 1q21.1
Location_base_pair Starts at 144951761 and ends at 144995033 bp from pter ( according to hg19-Feb_2009)  [Mapping]


Transcription Various splicing forms, in particular KIAA0477 and KIAA0454


Note The protein encoded by PDE4DIP is called myomegalin
Description Large protein; some isoforms having more than 2300 aminoacids (62 kDa and 230-250 kDa proteins in the rat ortholog); mainly composed of alpha-helical and coiled-coil structures; includes a leucine zipper in N-term, a dynactin-centractin binding domain, and a helix-loop-helix.
Expression in heart and skeletal muscles; little expression in other tissues
Localisation Cytoplasm in the Golgi/centrosomal area in non muscle cells and nucleus; in the sarcomeres of muscle cells
Function Interacts with the cyclic nucleotide phosphodiesterase PDE4D, enzymes that degrade and inactivate cAMP; may oligomerize
Homology With the Drosophila centrosomin (a component of the centrosome and the mitotic spindle)

Implicated in

Entity t(1;5)(q22;q33) in chronic eosinophilic leukemia --> PDE4DIP - PDGFRB
Note KIAA0477 isoforms was found involved in the hybrid gene / fusion protein.
Disease Rare disease mainly found in infants.
Prognosis Treatment with imatinib may be relevant.

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

HGNC (Hugo)PDE4DIP   15580
Entrez_Gene (NCBI)PDE4DIP  9659  phosphodiesterase 4D interacting protein
GeneCards (Weizmann)PDE4DIP
Ensembl hg19 (Hinxton)ENSG00000178104 [Gene_View]  chr1:144951761-144995033 [Contig_View]  PDE4DIP [Vega]
Ensembl hg38 (Hinxton)ENSG00000178104 [Gene_View]  chr1:144951761-144995033 [Contig_View]  PDE4DIP [Vega]
ICGC DataPortalENSG00000178104
Genatlas (Paris)PDE4DIP
Genomic and cartography
GoldenPath hg19 (UCSC)PDE4DIP  -     chr1:144951761-144995033 -  1q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDE4DIP  -     1q21.1   [Description]    (hg38-Dec_2013)
EnsemblPDE4DIP - 1q21.1 [CytoView hg19]  PDE4DIP - 1q21.1 [CytoView hg38]
Mapping of homologs : NCBIPDE4DIP [Mapview hg19]  PDE4DIP [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA025132 AA707296 AB007923 AB007946 AB042555
RefSeq transcript (Entrez)NM_001002810 NM_001002811 NM_001002812 NM_001195260 NM_001195261 NM_001198832 NM_001198834 NM_014644 NM_022359
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_027693 NT_004487 NW_001838510 NW_001838630 NW_001838632 NW_001838635 NW_001838641 NW_004929293
Consensus coding sequences : CCDS (NCBI)PDE4DIP
Cluster EST : UnigeneHs.731111 [ NCBI ]
CGAP (NCI)Hs.731111
Alternative Splicing : Fast-db (Paris)GSHG0002438
Alternative Splicing GalleryENSG00000178104
Gene ExpressionPDE4DIP [ NCBI-GEO ]     PDE4DIP [ SEEK ]   PDE4DIP [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VU43 (Uniprot)
NextProtQ5VU43  [Medical]
With graphics : InterProQ5VU43
Splice isoforms : SwissVarQ5VU43 (Swissvar)
Domaine pattern : Prosite (Expaxy)NBPF (PS51316)   
Domains : Interpro (EBI)NBPF_dom    Spindle_assoc   
Related proteins : CluSTrQ5VU43
Domain families : Pfam (Sanger)DUF1220 (PF06758)    Microtub_assoc (PF07989)   
Domain families : Pfam (NCBI)pfam06758    pfam07989   
DMDM Disease mutations9659
Blocks (Seattle)Q5VU43
Human Protein AtlasENSG00000178104
Peptide AtlasQ5VU43
IPIIPI00470939   IPI00869196   IPI00479644   IPI00337544   IPI00456484   IPI00642902   IPI00869114   IPI00643207   IPI00401276   IPI00868730   IPI00376888   IPI00982145   IPI00455448   IPI00979642   IPI00152241   IPI00977575   IPI00980240   IPI00975830   IPI00978568   IPI00976851   IPI00741084   IPI00976529   IPI00869124   IPI00982999   IPI00980385   IPI00975860   IPI00979020   IPI00983681   IPI00979892   IPI00984416   IPI00983066   IPI00982262   IPI00981690   
Protein Interaction databases
IntAct (EBI)Q5VU43
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  cytoplasm  Golgi apparatus  centrosome  centrosome  enzyme binding  myofibril  cellular protein complex assembly  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  Golgi apparatus  centrosome  centrosome  enzyme binding  myofibril  cellular protein complex assembly  
Protein Interaction DatabasePDE4DIP
DoCM (Curated mutations)PDE4DIP
Wikipedia pathwaysPDE4DIP
Gene fusion - rearrangements
Rearrangement : TICdbPDE4DIP [1q21.1]  -  PDGFRB [11p13]
Polymorphisms : SNP, variants
NCBI Variation ViewerPDE4DIP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE4DIP
Exome Variant ServerPDE4DIP
Genetic variants : HAPMAPPDE4DIP
Genomic Variants (DGV)PDE4DIP [DGVbeta]
ICGC Data PortalENSG00000178104 
Cancer Gene: CensusPDE4DIP 
Somatic Mutations in Cancer : COSMICPDE4DIP 
CONAN: Copy Number AnalysisPDE4DIP 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)1:144951761-144995033
Mutations and Diseases : HGMDPDE4DIP
NextProtQ5VU43 [Medical]
Disease Genetic AssociationPDE4DIP
Huge Navigator PDE4DIP [HugePedia]  PDE4DIP [HugeCancerGEM]
snp3D : Map Gene to Disease9659
DGIdb (Drug Gene Interaction db)PDE4DIP
General knowledge
Homologs : HomoloGenePDE4DIP
Homology/Alignments : Family Browser (UCSC)PDE4DIP
Phylogenetic Trees/Animal Genes : TreeFamPDE4DIP
Chemical/Protein Interactions : CTD9659
Chemical/Pharm GKB GenePA33131
Clinical trialPDE4DIP
Cancer Resource (Charite)ENSG00000178104
Other databases
PubMed31 Pubmed reference(s) in Entrez


Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase.
Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, Onuffer J, Jin SL, Conti M
The Journal of biological chemistry. 2001 ; 276 (14) : 11189-11198.
PMID 11134006
Isolation of novel heart-specific genes using the BodyMap database.
Soejima H, Kawamoto S, Akai J, Miyoshi O, Arai Y, Morohka T, Matsuo S, Niikawa N, Kimura A, Okubo K, Mukai T
Genomics. 2001 ; 74 (1) : 115-120.
PMID 11374908
Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.
Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp MA, Aguiar RC
Blood. 2003 ; 102 (12) : 4187-4190.
PMID 12907457
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI


Written05-2006Jean Loup Huret


This paper should be referenced as such :
Huret, JL
PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):227-227.
Free journal version : [ pdf ]   [ DOI ]

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indexed on : Tue Feb 17 20:38:43 CET 2015

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