Phosphodiesterase 4D, cAMP-Specific

Alternative Names

  • PDE4D
  • Dunce-Like Phosphodiesterase E3
  • DPDE3
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OMIM Number

600129

NCBI Gene ID

5144

Uniprot ID

Q08499

Length

1,555,292 bases

No. of Exons

39

No. of isoforms

12

Protein Name

cAMP-specific 3',5'-cyclic phosphodiesterase 4D

Molecular Mass

91115 Da

Amino Acid Count

809

Genomic Location

chr5:58,969,038-60,524,329

Gene Map Locus
5q11.2-q12.1

Description

This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001104631.2:c.73A>GLebanonchr5:59893550PathogenicAcrodysostosis 2 With or without Hormone ResistanceNG_027957.1:g.599549A>G; NM_001104631.2:c.73A>G; NP_001098101.1:p.Thr25Ala1014928103
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