PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

2006-05-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
PDE4DIP
LOCATION
1q21.1
LOCUSID
9659
ALIAS
CMYA2,MMGL
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

Various splicing forms, in particular KIAA0477 and KIAA0454

Proteins

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 name
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.

Article Bibliography

Pubmed IDLast YearTitleAuthors
113749082001Isolation of novel heart-specific genes using the BodyMap database.Soejima H et al
111340062001Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase.Verde I et al
129074572003Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.Wilkinson K et al

Other Information

Locus ID:

NCBI: 9659
MIM: 608117
HGNC: 15580
Ensembl: ENSG00000178104

Variants:

dbSNP: 9659
ClinVar: 9659
TCGA: ENSG00000178104
COSMIC: PDE4DIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178104ENST00000313431Q5VU43
ENSG00000178104ENST00000369347Q5VU43
ENSG00000178104ENST00000369349Q5VU43
ENSG00000178104ENST00000369351Q5VU43
ENSG00000178104ENST00000369354Q5VU43
ENSG00000178104ENST00000369356Q5VU43
ENSG00000178104ENST00000464103A0A087WYE4
ENSG00000178104ENST00000479408E9PQG4
ENSG00000178104ENST00000491426H0YCH7
ENSG00000178104ENST00000524974A0A087WX83
ENSG00000178104ENST00000526445E9PJU0
ENSG00000178104ENST00000528129E9PJK3
ENSG00000178104ENST00000529945Q5VU43
ENSG00000178104ENST00000530062H0YEW6
ENSG00000178104ENST00000530130H0YCY0
ENSG00000178104ENST00000530472Q5VU43
ENSG00000178104ENST00000533259E9PNE0
ENSG00000178104ENST00000534536E9PS60
ENSG00000178104ENST00000585156A0A075B749
ENSG00000178104ENST00000613995A0A087WWI2
ENSG00000178104ENST00000616206A0A087X041
ENSG00000178104ENST00000617454A0A087X229
ENSG00000178104ENST00000618462Q5VU43
ENSG00000178104ENST00000618504A0A087WWK4
ENSG00000178104ENST00000619981A0A087WWY1
ENSG00000178104ENST00000620605A0A087WVQ4
ENSG00000178104ENST00000621371A0A087X0I1

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
373556262023PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis.1
373556262023PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis.1
342602672021Myomegalin regulates Hedgehog pathway by controlling PDE4D at the centrosome.6
342895282021Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.8
342602672021Myomegalin regulates Hedgehog pathway by controlling PDE4D at the centrosome.6
342895282021Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.8
324711552020Bioinformatic Analysis Reveals Phosphodiesterase 4D-Interacting Protein as a Key Frontal Cortex Dementia Switch Gene.10
324711552020Bioinformatic Analysis Reveals Phosphodiesterase 4D-Interacting Protein as a Key Frontal Cortex Dementia Switch Gene.10
300304362018Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.29
300304362018Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.29
291626972017EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions.19
291626972017EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions.19
259611512015Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.27
259611512015Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.27
217675792011Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.24

Citation

Jean-Loup Huret

PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

Atlas Genet Cytogenet Oncol Haematol. 2006-05-01

Online version: http://atlasgeneticsoncology.org/gene/180/pde4dip-(phosphodiesterase-4d-interacting-protein-(myomegalin))