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Aliases for PDE4DIP Gene

Aliases for PDE4DIP Gene

  • Phosphodiesterase 4D Interacting Protein 2 3
  • MMGL 3 4 6
  • Cardiomyopathy-Associated Protein 2 3 4
  • Myomegalin 2 3
  • KIAA0454 4 6
  • KIAA0477 4 6
  • CMYA2 3 4
  • Myomegalin/Phosphodiesterase 4D Interacting Protein Variant 8 3
  • Phosphodiesterase 4D-Interacting Protein 4
  • Cardiomyopathy Associated 2 2

External Ids for PDE4DIP Gene

Previous Symbols for PDE4DIP Gene

  • CMYA2

Summaries for PDE4DIP Gene

Entrez Gene Summary for PDE4DIP Gene

  • The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

GeneCards Summary for PDE4DIP Gene

PDE4DIP (Phosphodiesterase 4D Interacting Protein) is a Protein Coding gene. Diseases associated with PDE4DIP include eosinophilia. GO annotations related to this gene include enzyme binding. An important paralog of this gene is CDK5RAP2.

UniProtKB/Swiss-Prot for PDE4DIP Gene

  • May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes.

Gene Wiki entry for PDE4DIP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE4DIP Gene

Genomics for PDE4DIP Gene

Genomic Location for PDE4DIP Gene

Start:
148,808,181 bp from pter
End:
149,048,286 bp from pter
Size:
240,106 bases
Orientation:
Plus strand

Genomic View for PDE4DIP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDE4DIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE4DIP Gene

Regulatory Elements for PDE4DIP Gene

Proteins for PDE4DIP Gene

  • Protein details for PDE4DIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VU43-MYOME_HUMAN
    Recommended name:
    Myomegalin
    Protein Accession:
    Q5VU43
    Secondary Accessions:
    • A2RU15
    • O75042
    • O75065
    • Q2YDC1
    • Q5VU42
    • Q5VU44
    • Q5VU45
    • Q5VU46
    • Q5VU47
    • Q5VU48
    • Q5VU49
    • Q68DU2
    • Q6AZ93
    • Q6PK88
    • Q86T40
    • Q86TB2
    • Q8N3W0
    • Q8TAY9
    • Q9HCP2
    • Q9HCP3
    • Q9HCP4
    • Q9HCP5

    Protein attributes for PDE4DIP Gene

    Size:
    2346 amino acids
    Molecular mass:
    265080 Da
    Quaternary structure:
    • Interacts with PDE4D.
    SequenceCaution:
    • Sequence=AAH04860.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA32299.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA32322.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD91152.1; Type=Frameshift; Positions=1507; Evidence={ECO:0000305}; Sequence=CAH18128.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for PDE4DIP Gene

neXtProt entry for PDE4DIP Gene

Proteomics data for PDE4DIP Gene at MOPED

Post-translational modifications for PDE4DIP Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser852

No data available for DME Specific Peptides for PDE4DIP Gene

Domains for PDE4DIP Gene

Protein Domains for PDE4DIP Gene

Suggested Antigen Peptide Sequences for PDE4DIP Gene

Graphical View of Domain Structure for InterPro Entry

Q5VU43

UniProtKB/Swiss-Prot:

MYOME_HUMAN
Domain:
  • Contains 1 NBPF domain.:
    • Q5VU43
genes like me logo Genes that share domains with PDE4DIP: view

No data available for Gene Families for PDE4DIP Gene

Function for PDE4DIP Gene

Molecular function for PDE4DIP Gene

UniProtKB/Swiss-Prot Function: May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes.

Gene Ontology (GO) - Molecular Function for PDE4DIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 17923693
GO:0019899 enzyme binding ISS 11134006
genes like me logo Genes that share ontologies with PDE4DIP: view

Phenotypes for PDE4DIP Gene

GenomeRNAi human phenotypes for PDE4DIP:
genes like me logo Genes that share phenotypes with PDE4DIP: view

miRNA for PDE4DIP Gene

miRTarBase miRNAs that target PDE4DIP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PDE4DIP Gene

Localization for PDE4DIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE4DIP Gene

Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDE4DIP Gene COMPARTMENTS Subcellular localization image for PDE4DIP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
golgi apparatus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PDE4DIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11374908
GO:0005737 cytoplasm IDA 11374908
GO:0005794 Golgi apparatus ISS 11134006
GO:0005813 centrosome ISS 11134006
GO:0030016 myofibril ISS 11134006
genes like me logo Genes that share ontologies with PDE4DIP: view

Pathways for PDE4DIP Gene

SuperPathways for PDE4DIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDE4DIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043623 cellular protein complex assembly ISS 11134006
genes like me logo Genes that share ontologies with PDE4DIP: view

No data available for Pathways by source for PDE4DIP Gene

Compounds for PDE4DIP Gene

(1) HMDB Compounds for PDE4DIP Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
genes like me logo Genes that share compounds with PDE4DIP: view

Transcripts for PDE4DIP Gene

Unigene Clusters for PDE4DIP Gene

Phosphodiesterase 4D interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDE4DIP Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6:
SP7:
SP8:
SP9: - - - - - - -
SP10:
SP11: - - -
SP12:
SP13: - -
SP14:
SP15:
SP16:

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49a · 49b ^ 50a · 50b ^ 51 ^ 52 ^ 53 ^ 54 ^ 55a · 55b
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for PDE4DIP Gene

GeneLoc Exon Structure for
PDE4DIP
ECgene alternative splicing isoforms for
PDE4DIP

Expression for PDE4DIP Gene

mRNA expression in normal human tissues for PDE4DIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE4DIP Gene

This gene is overexpressed in Muscle - Skeletal (14.8) and Heart - Left Ventricle (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDE4DIP Gene

SOURCE GeneReport for Unigene cluster for PDE4DIP Gene Hs.584841

mRNA Expression by UniProt/SwissProt for PDE4DIP Gene

Q5VU43-MYOME_HUMAN
Tissue specificity: Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta.
genes like me logo Genes that share expressions with PDE4DIP: view

Orthologs for PDE4DIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDE4DIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDE4DIP 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDE4DIP 35
  • 88.34 (n)
  • 86.02 (a)
PDE4DIP 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE4DIP 35
  • 87.65 (n)
  • 85.48 (a)
PDE4DIP 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde4dip 35
  • 83.13 (n)
  • 81.24 (a)
Pde4dip 16
Pde4dip 36
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDE4DIP 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE4DIP 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde4dip 35
  • 82.38 (n)
  • 79.11 (a)
chicken
(Gallus gallus)
Aves PDE4DIP 35
  • 62.22 (n)
  • 56.1 (a)
PDE4DIP 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE4DIP 36
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PDE4DIP 36
  • 31 (a)
OneToOne
si:ch211-242b18.1 35
  • 54.93 (n)
  • 45.75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToMany
Species with no ortholog for PDE4DIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDE4DIP Gene

ENSEMBL:
Gene Tree for PDE4DIP (if available)
TreeFam:
Gene Tree for PDE4DIP (if available)

Paralogs for PDE4DIP Gene

Paralogs for PDE4DIP Gene

genes like me logo Genes that share paralogs with PDE4DIP: view

Variants for PDE4DIP Gene

Sequence variations from dbSNP and Humsavar for PDE4DIP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3733 -- 149,032,937(+) GACAG(C/G)GTGGG utr-variant-3-prime
rs3734 -- 149,032,900(+) TGCTA(A/T)CGCCA utr-variant-3-prime
rs3736 -- 149,032,889(-) ACATA(A/T)ATAAA utr-variant-3-prime
rs8947 -- 149,032,959(+) GAAAG(C/T)CTTTT utr-variant-3-prime
rs9536 -- 149,032,983(+) AGCAA(A/G)ATGTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PDE4DIP Gene

Variant ID Type Subtype PubMed ID
nsv428212 CNV Gain 18775914
nsv872203 CNV Gain 21882294
dgv103e1 CNV Complex 17122850
dgv104e1 CNV Complex 17122850
nsv7181 OTHER Inversion 18451855
nsv436028 CNV Insertion 17901297
esv2717206 CNV Deletion 23290073
esv23161 CNV Gain 19812545
nsv831315 CNV Loss 17160897
dgv66e199 CNV Deletion 23128226
nsv872211 CNV Gain 21882294
esv2630464 CNV Gain 19546169
nsv872212 CNV Gain 21882294
dgv15n16 CNV Deletion 17901297
dgv46e201 CNV Deletion 23290073
dgv47e201 CNV Deletion 23290073
esv2717239 CNV Deletion 23290073
esv2717263 CNV Deletion 23290073
nsv510962 CNV Complex 20534489
nsv509457 CNV Insertion 20534489
dgv343n71 CNV Gain 21882294
nsv469838 CNV Complex 16826518
nsv471603 CNV Loss 15918152
nsv2 CNV Loss 15895083
nsv2633 CNV Loss 18451855
nsv872214 CNV Gain 21882294
esv1010993 CNV Deletion 20482838
nsv8058 CNV Loss 18304495
nsv821620 CNV Loss 15273396
dgv105e1 CNV Complex 17122850
esv1943257 CNV Deletion 18987734
esv6817 CNV Loss 19470904
esv2717274 CNV Deletion 23290073
nsv872215 CNV Loss 21882294
dgv16n16 CNV Deletion 17901297
esv2124797 CNV Deletion 18987734
esv7067 CNV Loss 19470904
esv2717285 CNV Deletion 23290073
nsv498686 CNV Loss 21111241
esv2191629 CNV Deletion 18987734
esv8887 CNV Loss 19470904
esv2717296 CNV Deletion 23290073
dgv106e1 CNV Complex 17122850
dgv107e1 CNV Complex 17122850
dgv108e1 CNV Complex 17122850
esv2455158 CNV Gain 19546169
nsv821349 CNV Duplication 20802225
nsv824365 CNV Gain 20364138
esv32934 CNV Gain+Loss 17666407
esv27392 CNV Gain 19812545
nsv8069 CNV Gain 18304495
esv2717318 CNV Deletion 23290073
esv2670878 CNV Deletion 23128226
dgv70n67 CNV Gain 20364138
nsv158975 CNV Insertion 16902084
dgv109e1 CNV Complex 17122850
dgv110e1 CNV Complex 17122850
nsv819024 CNV Gain 19587683
esv2391656 CNV Deletion 18987734
esv2717329 CNV Deletion 23290073
esv7052 CNV Loss 19470904
essv966 CNV CNV 17122850
nsv514005 CNV Gain 21397061
nsv831326 CNV Loss 17160897
esv2431887 CNV Gain 19546169
dgv344n71 CNV Gain 21882294
esv6514 CNV Gain 19470904
essv2737 CNV CNV 17122850
esv1942033 CNV Deletion 18987734
nsv872218 CNV Gain 21882294
nsv511712 CNV Loss 21212237
esv2582001 CNV Deletion 19546169
esv1963892 CNV Deletion 18987734
esv1004968 CNV Deletion 20482838
esv2717340 CNV Deletion 23290073
esv2649952 CNV Deletion 19546169
esv6218 CNV Loss 19470904
esv9122 CNV Gain 19470904
esv7886 CNV Gain 19470904
esv2522501 CNV Deletion 19546169
nsv2644 CNV Loss 18451855
nsv872222 CNV Gain 21882294

Relevant External Links for PDE4DIP Gene

HapMap Linkage Disequilibrium report
PDE4DIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE4DIP Gene

Disorders for PDE4DIP Gene

UniProtKB/Swiss-Prot

MYOME_HUMAN
  • Note=A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein.

(1) MalaCards Diseases for PDE4DIP Gene

Search for PDE4DIP Gene in MalaCards »

Relevant External Links for PDE4DIP

Genetic Association Database (GAD)
PDE4DIP
Human Genome Epidemiology (HuGE) Navigator
PDE4DIP
genes like me logo Genes that share disorders with PDE4DIP: view

Publications for PDE4DIP Gene

  1. Isolation of novel heart-specific genes using the BodyMap database. (PMID: 11374908) Soejima H. … Mukai T. (Genomics 2001) 3 4 23
  2. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N. … Ohara O. (DNA Res. 1997) 2 3 4
  3. Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase. (PMID: 11134006) Verde I. … Conti M. (J. Biol. Chem. 2001) 2 3
  4. Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. (PMID: 12907457) Wilkinson K. … Aguiar R.C.T. (Blood 2003) 4 23
  5. Serum anti-myomegalin antibodies in patients with esophageal squamous cell carcinoma. (PMID: 17143517) Shimada H. … Hiwasa T. (Int. J. Oncol. 2007) 3 23

Products for PDE4DIP Gene

  • antibodies-online proteins for PDE4DIP
  • antibodies-online antibodies for PDE4DIP
  • antibodies-online kits for PDE4DIP

Sources for PDE4DIP Gene

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