1. Gene
  2. PDE4DIP - phosphodiesterase 4D interacting protein Gene

PDE4DIP - phosphodiesterase 4D interacting protein Gene

Homo sapiens

Also known as MMGL; CMYA2

Gene ID: 9659 | Gene type: protein coding

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

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

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