Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

Written2006-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)CMYA2
KIAA0477
KIAA0454
MMGL
Myomegalin
HGNC (Hugo) PDE4DIP
HGNC Alias symbKIAA0477
KIAA0454
MMGL
HGNC Alias namemyomegalin
HGNC Previous nameCMYA2
HGNC Previous namecardiomyopathy associated 2
LocusID (NCBI) 9659
Atlas_Id 180
Location 1q21.1  [Link to chromosome band 1q21]
Location_base_pair Starts at 148808342 and ends at 148932728 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping PDE4DIP.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
E2F5 (8q21.2)::PDE4DIP (1q21.1)EFTUD2 (17q21.31)::PDE4DIP (1q21.1)KCNK5 (6p21.2)::PDE4DIP (1q21.1)
MPZL1 (1q24.2)::PDE4DIP (1q21.1)PDE4DIP (1q21.1)::C1orf186 (1q32.1)PDE4DIP (1q21.1)::PDGFRB (5q32)
PDE4DIP (1q21.1)::TTC28 (22q12.1)PDGFRB (5q32)::PDE4DIP (1q21.1)TRPS1 (8q23.3)::PDE4DIP (1q21.1)
VANGL2 (1q23.2)::PDE4DIP (1q21.1)

DNA/RNA

Transcription Various splicing forms, in particular KIAA0477 and KIAA0454

Protein

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

Note
  
Entity 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.
  

Bibliography

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
 
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
 
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
 

Citation

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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  der(5)t(1;5)(q12-q25;q13-q35)
t(1;5)(q21;q32) PDE4DIP::PDGFRB::t(1;5)(q21-23;q32) TPM3::PDGFRB::t(1;5)(q21-23;q31-33)


External links

Nomenclature
HGNC (Hugo)PDE4DIP   15580
Cards
AtlasPDE4DIP01q22ID180
Entrez_Gene (NCBI)PDE4DIP    phosphodiesterase 4D interacting protein
AliasesCMYA2; MMGL
GeneCards (Weizmann)PDE4DIP
Ensembl hg19 (Hinxton)ENSG00000178104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178104 [Gene_View]  ENSG00000178104 [Sequence]  chr1:148808342-148932728 [Contig_View]  PDE4DIP [Vega]
ICGC DataPortalENSG00000178104
TCGA cBioPortalPDE4DIP
AceView (NCBI)PDE4DIP
Genatlas (Paris)PDE4DIP
SOURCE (Princeton)PDE4DIP
Genetics Home Reference (NIH)PDE4DIP
Genomic and cartography
GoldenPath hg38 (UCSC)PDE4DIP  -     chr1:148808342-148932728 +  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDE4DIP  -     1q21.2   [Description]    (hg19-Feb_2009)
GoldenPathPDE4DIP - 1q21.2 [CytoView hg19]  PDE4DIP - 1q21.2 [CytoView hg38]
ImmunoBaseENSG00000178104
Genome Data Viewer NCBIPDE4DIP [Mapview hg19]  
OMIM608117   
Gene and transcription
Genbank (Entrez)AA025132 AA434604 AA707296 AB007923 AB007946
RefSeq transcript (Entrez)NM_001002810 NM_001002811 NM_001002812 NM_001195260 NM_001195261 NM_001198832 NM_001198834 NM_001350520 NM_001350521 NM_001350522 NM_001350523 NM_001377392 NM_001377393 NM_014644 NM_022359
Consensus coding sequences : CCDS (NCBI)PDE4DIP
Gene ExpressionPDE4DIP [ NCBI-GEO ]   PDE4DIP [ EBI - ARRAY_EXPRESS ]   PDE4DIP [ SEEK ]   PDE4DIP [ MEM ]
Gene Expression Viewer (FireBrowse)PDE4DIP [ Firebrowse - Broad ]
GenevisibleExpression of PDE4DIP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9659
GTEX Portal (Tissue expression)PDE4DIP
Human Protein AtlasENSG00000178104-PDE4DIP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PDE4DIP
Human Protein Atlas [tissue]ENSG00000178104-PDE4DIP [tissue]
HPRD10482
Protein Interaction databases
BioGRIDPDE4DIP
STRING (EMBL)PDE4DIP
ZODIACPDE4DIP
Ontologies - Pathways
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPDE4DIP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:24:48 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.