• Gene id: 5143

Gene Summary

• Gene Symbol: PDE4C   Gene   UCSC   Ensembl
• Aliases: DPDE1, PDE21
• Gene name: phosphodiesterase 4C
• Alternate names: cAMP-specific 3',5'-cyclic phosphodiesterase 4C, dunce-like phosphodiesterase E1, phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila),
• Gene location: 19p13.11 (18248199: 18207960)     Exons: 20     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular sign
• OMIM: 600128

Protein Summary

• Protein general information: Q08493  
  • Name: cAMP specific 3',5' cyclic phosphodiesterase 4C (EC 3.1.4.53) (DPDE1) (PDE21)
  • Length: 712  
  • Mass: 79902
  • Tissue specificity: Expressed in various tissues but not in cells of the immune system.
• Sequence:

  MENLGVGEGAEACSRLSRSRGRHSMTRAPKHLWRQPRRPIRIQQRFYSDPDKSAGCRERDLSPRPELRKSRLSWP
  VSSCRRFDLENGLSCGRRALDPQSSPGLGRIMQAPVPHSQRRESFLYRSDSDYELSPKAMSRNSSVASDLHGEDM
  IVTPFAQVLASLRTVRSNVAALARQQCLGAAKQGPVGNPSSSNQLPPAEDTGQKLALETLDELDWCLDQLETLQT
  RHSVGEMASNKFKRILNRELTHLSETSRSGNQVSEYISRTFLDQQTEVELPKVTAEEAPQPMSRISGLHGLCHSA
  SLSSATVPRFGVQTDQEEQLAKELEDTNKWGLDVFKVAELSGNRPLTAIIFSIFQERDLLKTFQIPADTLATYLL
  MLEGHYHANVAYHNSLHAADVAQSTHVLLATPALEAVFTDLEILAALFASAIHDVDHPGVSNQFLINTNSELALM
  YNDASVLENHHLAVGFKLLQAENCDIFQNLSAKQRLSLRRMVIDMVLATDMSKHMNLLADLKTMVETKKVTSLGV
  LLLDNYSDRIQVLQNLVHCADLSNPTKPLPLYRQWTDRIMAEFFQQGDRERESGLDISPMCDKHTASVEKSQVGF
  IDYIAHPLWETWADLVHPDAQDLLDTLEDNREWYQSKIPRSPSDLTNPERDGPDRFQFELTLEEAEEEDEEEEEE
  GEETALAKEALELPDTELLSPEAGPDPGDLPLDNQRT

• Structural information:
  • Protein Domains: (312..64-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003607  IPR040844  IPR023088  IPR002073  IPR036971   IPR023174  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • PDB: 1LXU 2QYM
  • PDBsum: 1LXU 2QYM
  • STRING: ENSP00000347689
• Other Databases: GeneCards:  PDE4C  Malacards:  PDE4C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	IBA	molecular function
GO:0005929	cilium	ISS	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006198	cAMP catabolic process	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04024	cAMP signaling pathway
hsa00230	Purine metabolism
hsa05032	Morphine addiction
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray