PDE4DIP - phosphodiesterase 4D interacting protein Gene

Also Known as MMGL; CMYA2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9659

About PDE4DIP

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:148,808,434-149,033,016 (from NCBI)

This gene has 61 transcripts (splice variants), 276 orthologues, 1 paralogue and is associated with 101 phenotypes. Biased expression in heart (RPKM 86.3), brain (RPKM 18.4) and 10 other tissues.

Summary

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]

PDE4DIP Products (49)

mRNA Protein Name
NM_001002810.5 NP_001002810.1 myomegalin isoform 4
NM_001002811.3 NP_001002811.2 myomegalin isoform 5
NM_001002812.4 NP_001002812.2 myomegalin isoform 2
NM_001195260.2 NP_001182189.1 myomegalin isoform 6
NM_001195261.2 NP_001182190.1 myomegalin isoform 7
NM_001198832.4 NP_001185761.2 myomegalin isoform 8
NM_001198834.5 NP_001185763.3 myomegalin isoform 9
NM_001350520.2 NP_001337449.1 myomegalin isoform 10
NM_001350521.4 NP_001337450.1 myomegalin isoform 11
NM_001350522.3 NP_001337451.1 myomegalin isoform 12
NM_001350523.3 NP_001337452.1 myomegalin isoform 13
NM_001377392.2 NP_001364321.1 myomegalin isoform 14
NM_001377393.2 NP_001364322.1 myomegalin isoform 15
NM_001395297.1 NP_001382226.1 myomegalin isoform 16
NM_001395298.1 NP_001382227.1 myomegalin isoform 17
NM_001395299.1 NP_001382228.1 myomegalin isoform 18
NM_001395300.1 NP_001382229.1 myomegalin isoform 19
NM_001395301.1 NP_001382230.1 myomegalin isoform 20
NM_001395302.1 NP_001382231.1 myomegalin isoform 21
NM_001395303.1 NP_001382232.1 myomegalin isoform 22
NM_001395304.1 NP_001382233.1 myomegalin isoform 23
NM_001395305.1 NP_001382234.1 myomegalin isoform 24
NM_001395306.1 NP_001382235.1 myomegalin isoform 25
NM_001395307.1 NP_001382236.1 myomegalin isoform 26
NM_001395308.1 NP_001382237.1 myomegalin isoform 27
NM_001395309.1 NP_001382238.1 myomegalin isoform 28
NM_001395310.1 NP_001382239.1 myomegalin isoform 29
NM_001395311.1 NP_001382240.1 myomegalin isoform 30
NM_001395312.1 NP_001382241.1 myomegalin isoform 31
NM_001395313.1 NP_001382242.1 myomegalin isoform 32
NM_001395314.1 NP_001382243.1 myomegalin isoform 33
NM_001395315.1 NP_001382244.1 myomegalin isoform 34
NM_001395316.1 NP_001382245.1 myomegalin isoform 35
NM_001395317.1 NP_001382246.1 myomegalin isoform 36
NM_001395318.1 NP_001382247.1 myomegalin isoform 37
NM_001395319.1 NP_001382248.1 myomegalin isoform 38
NM_001395320.1 NP_001382249.1 myomegalin isoform 39
NM_001395321.1 NP_001382250.1 myomegalin isoform 40
NM_001395322.1 NP_001382251.1 myomegalin isoform 41
NM_001395323.1 NP_001382252.1 myomegalin isoform 42
NM_001395324.1 NP_001382253.1 myomegalin isoform 43
NM_001395325.1 NP_001382254.1 myomegalin isoform 44
NM_001395326.1 NP_001382255.1 myomegalin isoform 45
NM_001395327.1 NP_001382256.1 myomegalin isoform 46
NM_001395328.1 NP_001382257.1 myomegalin isoform 6
NM_001395329.1 NP_001382258.1 myomegalin isoform 6
NM_001395426.1 NP_001382355.1 myomegalin isoform 47
NM_014644.7 NP_055459.5 myomegalin isoform 1
NM_022359.8 NP_071754.3 myomegalin isoform 3

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
27666745 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17923693 GOA
Biological Process GO Annotation Evidence References Source
involved in astral microtubule organization IMP
IMP: Inferred from mutant phenotype
29162697 GOA
involved in positive regulation of microtubule nucleation IMP
IMP: Inferred from mutant phenotype
29162697 GOA
involved in regulation of Golgi organization IDA
IDA: Inferred from direct assay
27666745 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
27666745 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
colocalizes with cortical microtubule plus-end IDA
IDA: Inferred from direct assay
29162697 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
11374908 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11374908 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDE4DIP Protein Structure

Cnn_1N

Cnn_1N: Centrosomin N-terminal motif 1 (5 - 77)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (1562 - 1611)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2346 a.a.
Protein Preferred Names Protein Names

myomegalin

  • cardiomyopathy-associated protein 2

Related Diseases

Diseases Alias
Adult Pineoblastoma
Adult Pineal Parenchymal Tumor

  • Adult Pineal Parenchymal Neoplasm
Breast Neuroendocrine Neoplasm

  • Neuroendocrine Tumor Of The Breast
Hydrolethalus Syndrome 1

  • Hydrolethalus Syndrome

  • HLS1

  • Salonen-Herva-Norio Syndrome

  • Hls

  • Hydrolethalus

  • Hydrolethalus Syndrome, Type 1
Cervical Large Cell Neuroendocrine Carcinoma
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10226 PDE4DIP Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21249 Pde4dip Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27766 Pde4dip Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PDE4DIP RGD RGD:708410
Felis catus PDE4DIP VGNC VGNC:108373
Mus musculus PDE4DIP MGD MGI:1891434
Bos taurus PDE4DIP VGNC VGNC:55072