Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Short Communication PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin)) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France Published in Atlas Database: May 2006 Online updated version: http://AtlasGeneticsOncology.org/Genes/PDE4DIP01q22ID180.html DOI: 10.4267/2042/38344 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2006 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Homology With the Drosophila centrosomin (a component of the Hugo: PDE4DIP centrosome and the mitotic spindle). Other names: CMYA2; KIAA0477; KIAA0454; MMGL; Myomegalin Implicated in Location: 1q22 t(1;5)(q22;q33) in chronic eosinophilic DNA/RNA leukemia → PDE4DIP-PDGFRB Transcription Note: KIAA0477 isoforms was found involved in the Various splicing forms, in particular KIAA0477 and hybrid gene / fusion protein. KIAA0454. Disease Protein Rare disease mainly found in infants. Prognosis Note: The protein encoded by PDE4DIP is called Treatment with imatinib may be relevant. myomegalin. Description References Large protein; some isoforms having more than 2300 Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, aminoacids (62 kDa and 230-250 kDa proteins in the Onuffer J, Jin SL, Conti M. Myomegalin is a novel protein of rat ortholog); mainly composed of alpha-helical and the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase. J Biol Chem 2001;276:11189-11198. coiled-coil structures; includes a leucine zipper in N- Soejima H, Kawamoto S, Akai J, Miyoshi O, Arai Y, Morohka term, a dynactin-centractin binding domain, and a T, Matsuo S, Niikawa N, Kimura A, Okubo K, Mukai T. Isolation helix-loop-helix. of novel heart-specific genes using the BodyMap database. Expression Genomics 2001;74:115-120. Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp In heart and skeletal muscles; little expression in other MA, Aguiar RC. Cloning of the t(1;5)(q23;q33) in a tissues. myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. Blood Localisation 2003;102:4187-4190. Cytoplasm in the Golgi/centrosomal area in non muscle cells and nucleus; in the sarcomeres of muscle cells. This article should be referenced as such: Huret JL. PDE4DIP (phosphodiesterase 4D interacting protein Function (myomegalin)). Atlas Genet Cytogenet Oncol Haematol.2006; 10(4):227. Interacts with the cyclic nucleotide phosphodiesterase PDE4D, enzymes that degrade and inactivate cAMP; may oligomerize. Atlas Genet Cytogenet Oncol Haematol. 2006;10(4) 227 .