PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

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PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

Written	2006-05	Jean-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_names	CMYA2
	cardiomyopathy associated 2
Alias_symbol (synonym)	KIAA0477
	KIAA0454
	MMGL
Other alias	Myomegalin
HGNC (Hugo)	PDE4DIP
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 hg19-Feb_2009) [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 ]

On line version : http://AtlasGeneticsOncology.org/Genes/PDE4DIP01q22ID180.html

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

	Nomenclature
HGNC (Hugo)	PDE4DIP 15580
	Cards
Atlas	PDE4DIP01q22ID180
Entrez_Gene (NCBI)	PDE4DIP 9659 phosphodiesterase 4D interacting protein
Aliases	CMYA2; 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 DataPortal	ENSG00000178104
TCGA cBioPortal	PDE4DIP
AceView (NCBI)	PDE4DIP
Genatlas (Paris)	PDE4DIP
WikiGenes	9659
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)
GoldenPath	PDE4DIP - 1q21.2 [CytoView hg19] PDE4DIP - 1q21.2 [CytoView hg38]
Genome Data Viewer NCBI	PDE4DIP [Mapview hg19]
OMIM	608117
	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
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	PDE4DIP
Alternative Splicing Gallery	ENSG00000178104
Gene Expression	PDE4DIP [ NCBI-GEO ] PDE4DIP [ EBI - ARRAY_EXPRESS ] PDE4DIP [ SEEK ] PDE4DIP [ MEM ]
Gene Expression Viewer (FireBrowse)	PDE4DIP [ Firebrowse - Broad ]
Genevisible	Expression of PDE4DIP in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	9659
GTEX Portal (Tissue expression)	PDE4DIP
Human Protein Atlas	ENSG00000178104-PDE4DIP [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q5VU43 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q5VU43 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q5VU43
Splice isoforms : SwissVar	Q5VU43
PhosPhoSitePlus	Q5VU43
Domaine pattern : Prosite (Expaxy)	ODV (PS51316)
Domains : Interpro (EBI)	Cnn_1N Olduvai_dom
Domain families : Pfam (Sanger)	Cnn_1N (PF07989) Olduvai (PF06758)
Domain families : Pfam (NCBI)	pfam07989 pfam06758
Domain families : Smart (EMBL)	DUF1220 (SM01148)
Conserved Domain (NCBI)	PDE4DIP
DMDM Disease mutations	9659
Superfamily	Q5VU43
Human Protein Atlas [tissue]	ENSG00000178104-PDE4DIP [tissue]
Peptide Atlas	Q5VU43
HPRD	10482
IPI	IPI00470939 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
DIP (DOE-UCLA)	Q5VU43
IntAct (EBI)	Q5VU43
FunCoup	ENSG00000178104
BioGRID	PDE4DIP
STRING (EMBL)	PDE4DIP
ZODIAC	PDE4DIP
	Ontologies - Pathways
QuickGO	Q5VU43
Ontology : AmiGO	protein binding nucleus cytoplasm Golgi apparatus Golgi apparatus centrosome centrosome enzyme binding myofibril cellular protein-containing complex assembly molecular adaptor activity regulation of Golgi organization
Ontology : EGO-EBI	protein binding nucleus cytoplasm Golgi apparatus Golgi apparatus centrosome centrosome enzyme binding myofibril cellular protein-containing complex assembly molecular adaptor activity regulation of Golgi organization
NDEx Network	PDE4DIP
Atlas of Cancer Signalling Network	PDE4DIP
Wikipedia pathways	PDE4DIP
	Orthology - Evolution
OrthoDB	9659
GeneTree (enSembl)	ENSG00000178104
Phylogenetic Trees/Animal Genes : TreeFam	PDE4DIP
HOGENOM	Q5VU43
Homologs : HomoloGene	PDE4DIP
Homology/Alignments : Family Browser (UCSC)	PDE4DIP
	Gene fusions - Rearrangements
Fusion : Mitelman	KCNK5/PDE4DIP [6p21.2/1q21.1]
Fusion : Mitelman	MPZL1/PDE4DIP [1q24.2/1q21.1]
Fusion : Mitelman	PDE4DIP/C1orf186 [1q21.1/1q32.1]
Fusion : Mitelman	PDE4DIP/PDGFRB [1q21.1/5q32]
Fusion : Mitelman	PDE4DIP/TTC28 [1q21.1/22q12.1]
Fusion : Mitelman	TRPS1/PDE4DIP [8q23.3/1q21.1]
Fusion : Mitelman	VANGL2/PDE4DIP [1q23.2/1q21.1]
Fusion Portal	KCNK5 6p21.2 PDE4DIP 1q21.1 LUAD
Fusion Portal	MPZL1 1q24.2 PDE4DIP 1q21.1 BRCA
Fusion Portal	PDE4DIP 1q21.1 C1orf186 1q32.1 BRCA
Fusion Portal	TRPS1 8q23.3 PDE4DIP 1q21.1 BRCA
Fusion Portal	VANGL2 1q23.2 PDE4DIP 1q21.1 LUAD
Fusion : TICdb	PDE4DIP [1q21.1] - PDGFRB [5q32]
Fusion : Fusion_Hub	ANKRD13C--PDE4DIP CH17-472G23.4--PDE4DIP CNN3--PDE4DIP CRTC2--PDE4DIP CUX1--PDE4DIP E2F5--PDE4DIP EFTUD2--PDE4DIP EIF1AX--PDE4DIP EPS15L1--PDE4DIP ETV6--PDE4DIP FAM213A--PDE4DIP FN1--PDE4DIP GFRA2--PDE4DIP KCNK5--PDE4DIP LINC01719--PDE4DIP
	LOC653513--PDE4DIP LPL--PDE4DIP MAN1A2--PDE4DIP MPZL1--PDE4DIP MYO18A--PDE4DIP NBPF13P--PDE4DIP OGDH--PDE4DIP PDE4DIP--ABCD3 PDE4DIP--ACTN2 PDE4DIP--ADD1 PDE4DIP--ARL6IP5 PDE4DIP--ART3 PDE4DIP--ATP1A1 PDE4DIP--ATP2B1 PDE4DIP--ATP5J
	PDE4DIP--BCAS1 PDE4DIP--BCAS2 PDE4DIP--C1ORF186 PDE4DIP--CHMP1A PDE4DIP--COPA PDE4DIP--CRY1 PDE4DIP--DAP3 PDE4DIP--EIF1AX PDE4DIP--EIF4G3 PDE4DIP--GBP2 PDE4DIP--GPSM2 PDE4DIP--HSA-MIR-6723 PDE4DIP--ING1 PDE4DIP--IPO9 PDE4DIP--LOC728989
	PDE4DIP--MYL1 PDE4DIP--NAV1 PDE4DIP--NEB PDE4DIP--NEXN PDE4DIP--NPPA PDE4DIP--NUDC PDE4DIP--NUP214 PDE4DIP--OBSCN PDE4DIP--PCCB PDE4DIP--PDGFRB PDE4DIP--RPS6KC1 PDE4DIP--RSRC1 PDE4DIP--SAFB PDE4DIP--SGSM3 PDE4DIP--SH3KBP1
	PDE4DIP--SMYD3 PDE4DIP--SPG21 PDE4DIP--SVIL PDE4DIP--TBC1D23 PDE4DIP--TPM3 PDE4DIP--TTC27 PDE4DIP--UBR5 PDE4DIP--WI2-1896O14.1 PDE4DIP--YLPM1 PDE4DIP--ZNF644 PDGFRB--PDE4DIP PPP6R2--PDE4DIP SH3BP5L--PDE4DIP SH3GL1--PDE4DIP STIM1--PDE4DIP
	TNNT3--PDE4DIP TRPS1--PDE4DIP TTN--PDE4DIP VANGL2--PDE4DIP ZMYM4--PDE4DIP
Fusion : Quiver	PDE4DIP
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	PDE4DIP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	PDE4DIP
dbVar	PDE4DIP
ClinVar	PDE4DIP
1000_Genomes	PDE4DIP
Exome Variant Server	PDE4DIP
GNOMAD Browser	ENSG00000178104
Varsome Browser	PDE4DIP
Genetic variants : HAPMAP	9659
Genomic Variants (DGV)	PDE4DIP [DGVbeta]
DECIPHER	PDE4DIP [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	PDE4DIP
	Mutations
ICGC Data Portal	PDE4DIP
TCGA Data Portal	PDE4DIP
Broad Tumor Portal	PDE4DIP
OASIS Portal	PDE4DIP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	PDE4DIP [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	PDE4DIP
Mutations and Diseases : HGMD	PDE4DIP
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
BioMuta	select PDE4DIP
DgiDB (Drug Gene Interaction Database)	PDE4DIP
DoCM (Curated mutations)	PDE4DIP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	PDE4DIP (select a term)
intoGen	PDE4DIP
NCG6 (London)	select PDE4DIP
Cancer3D	PDE4DIP (select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	608117
Orphanet
DisGeNET	PDE4DIP
Medgen	PDE4DIP
Genetic Testing Registry	PDE4DIP
NextProt	Q5VU43 [Medical]
TSGene	9659
GENETests	PDE4DIP
Open Targets Genetics	ENSG00000178104 [validation]
snp3D : Map Gene to Disease	9659
BioCentury BCIQ	PDE4DIP
ClinGen	PDE4DIP
	Clinical trials, drugs, therapy
Protein Interactions : CTD	9659
Pharm GKB Gene	PA33131
Clinical trial	PDE4DIP
	Miscellaneous
canSAR (ICR)	PDE4DIP (select the gene name)
Harmonizome	PDE4DIP
DataMed Index	PDE4DIP
	Probes
	Litterature
PubMed	55 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	PDE4DIP
EVEX	PDE4DIP

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Sat Jul 11 20:32:25 CEST 2020

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