Written | 2006-05 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
Alias (NCBI) | CMYA2 | KIAA0477 | KIAA0454 | MMGL | Myomegalin |
HGNC (Hugo) | PDE4DIP |
HGNC Alias symb | KIAA0477 | KIAA0454 | MMGL |
HGNC Alias name | myomegalin |
HGNC Previous name | CMYA2 |
HGNC Previous name | cardiomyopathy 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 | 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. |
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) |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ] |
t(1;1)(q21;q23) VANGL2/PDE4DIP
t(1;1)(q21;q24) MPZL1/PDE4DIP t(1;6)(q21;p21) KCNK5/PDE4DIP t(1;8)(q21;q23) TRPS1/PDE4DIP t(1;22)(q21;q12) PDE4DIP/TTC28 |
External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Feb 19 17:57:13 CET 2021 |
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