Human Gene PDE4D (uc003jru.3)
  Description: Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 8, mRNA.
RefSeq Summary (NM_001197222): 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.[provided by RefSeq, Sep 2009].
Transcript (Including UTRs)
   Position: hg19 chr5:58,264,866-58,335,339 Size: 70,474 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr5:58,270,491-58,334,934 Size: 64,444 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:58,264,866-58,335,339)mRNA (may differ from genome)Protein (585 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PDE4D
CDC HuGE Published Literature: PDE4D
Positive Disease Associations: Apolipoprotein A-I , Apolipoproteins B , asthma , Blood Coagulation Factors , Body Composition , Body Height , bone density , Brain Ischemia|Hypertension|Stroke , Brain Ischemia|Intracranial Hemorrhages|Stroke , Calcium-Binding Proteins , Cholesterol , Cholesterol, HDL , Cholesterol, LDL , chronic obstructive pulmonary disease/COPD , Cystatins , Diabetes Mellitus , Echocardiography , Esophageal Neoplasms , Hip , Mental Competency , Neurotic Disorders , neuroticism , Peroxidase , Sleep , sleepiness , Stroke , stroke, ischemic , Triglycerides
Related Studies:
  1. Apolipoprotein A-I
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. asthma
    Himes ,et al. 2009, Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene, American journal of human genetics 2009 84- 5 : 581-93. [PubMed 19426955]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PDE4D
Diseases sorted by gene-association score: acrodysostosis 2, with or without hormone resistance* (1331), acrodysostosis* (281), chromosome 5q12 deletion syndrome* (247), acrodysostosis with multiple hormone resistance* (247), atrial fibrillation and stroke (18), ocular hypotension (8), stroke, ischemic (7), pseudopseudohypoparathyroidism (6), western equine encephalitis (6), cerebrovascular disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C433247 Cilomilast
  • D004958 Estradiol
  • C554440 1-((5-(1-aminoethyl)-2-(8-methoxy-2-(triflurormethyl)-5-quinolinyl)-4-oxazolyl) carbonyl)-4-((cyclopropylcarbonyl)amino)proline ethyl ester
  • C009505 4,4'-diaminodiphenylmethane
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D001280 Atrazine
  • D001554 Benzene
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.03 RPKM in Muscle - Skeletal
Total median expression: 113.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -196.80405-0.486 Picture PostScript Text
3' UTR -1428.485625-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00233 - 3'5'-cyclic nucleotide phosphodiesterase

SCOP Domains:
109604 - HD-domain/PDEase-like

ModBase Predicted Comparative 3D Structure on Q08499-4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  JA482076 - Sequence 59 from Patent WO2011072091.
JE980368 - Sequence 59 from Patent EP2862929.
JA482075 - Sequence 58 from Patent WO2011072091.
JE980367 - Sequence 58 from Patent EP2862929.
JA482077 - Sequence 60 from Patent WO2011072091.
JE980369 - Sequence 60 from Patent EP2862929.
U02882 - Human rolipram-sensitive 3',5'-cyclic AMP phosphodiesterase mRNA, complete cds.
L20970 - Human phosphodiesterase mRNA, complete cds.
AF012073 - Homo sapiens cAMP-specific phosphodiesterase PDE4D5 (PDE4D) mRNA, complete cds.
L20969 - Homo sapiens cyclic AMP phosphodiesterase mRNA, complete cds.
HM005449 - Homo sapiens clone HTL-T-136 testicular tissue protein Li 136 mRNA, complete cds.
AF536976 - Homo sapiens cAMP-specific phosphodiesterase PDE4D7 (PDE4D) mRNA, complete cds; alternatively spliced.
U50159 - Human cAMP-specific phosphodiesterase HPDE4D3 variant (PDE4D) mRNA, complete cds.
AY245866 - Homo sapiens cAMP-specific phosphodiesterase variant PDE4D7 (PDE4D) mRNA, complete cds; alternatively spliced.
AJ250854 - Homo sapiens partial mRNA for cAMP-specific phosphodiesterase 4D (PDE4DN3 gene).
AF012074 - Homo sapiens cAMP-specific phosphodiesterase PDE4D2 (PDE4D) mRNA, complete cds.
AY388960 - Homo sapiens cAMP-specific phosphodiesterase PDE4D9 (PDE4D) mRNA, complete cds.
AF536977 - Homo sapiens cAMP-specific phosphodiesterase PDE4D8 (PDE4D) mRNA, complete cds; alternatively spliced.
U50157 - Human cAMP-specific phosphodiesterase HPDE4D1 variant (PDE4D) mRNA, complete cds.
U50158 - Human cAMP-specific phosphodiesterase HPDE4D2 variant (PDE4D) mRNA, complete cds.
AY245867 - Homo sapiens cAMP-specific phosphodiesterase variant PDE4D9 (PDE4D) mRNA, complete cds; alternatively spliced.
AB528028 - Synthetic construct DNA, clone: pF1KB6242, Homo sapiens PDE4D gene for cAMP-specific 3',5'-cyclic phosphodiesterase 4D, without stop codon, in Flexi system.
AJ250852 - Homo sapiens partial mRNA for cAMP-specific phosphodiesterase 4D, (PDE4DN1 gene).
U79571 - Homo sapiens 3',5'-cyclic nucleotide phosphodiesterase 4D splice variant 1 (HSPDE4D) mRNA, partial cds.
AJ250855 - Homo sapiens partial mRNA for cAMP-specific phosphodiesterase 4D, (PDE4DN2 gene).
AF536980 - Homo sapiens cAMP-specific phosphodiesterase (PDE4D) mRNA, 3' untranslated region, partial sequence.
JD127400 - Sequence 108424 from Patent EP1572962.
JD198938 - Sequence 179962 from Patent EP1572962.
JD247501 - Sequence 228525 from Patent EP1572962.
JD504116 - Sequence 485140 from Patent EP1572962.
JD504296 - Sequence 485320 from Patent EP1572962.
JD534060 - Sequence 515084 from Patent EP1572962.
BC036319 - Homo sapiens phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila), mRNA (cDNA clone MGC:42769 IMAGE:4828512), complete cds.
JD549434 - Sequence 530458 from Patent EP1572962.
AF536975 - Homo sapiens cAMP-specific phosphodiesterase PDE4D6 (PDE4D) mRNA, complete cds; alternatively spliced.
JF432192 - Synthetic construct Homo sapiens clone IMAGE:100073352 phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) (PDE4D) gene, encodes complete protein.
KJ897310 - Synthetic construct Homo sapiens clone ccsbBroadEn_06704 PDE4D gene, encodes complete protein.
CU690324 - Synthetic construct Homo sapiens gateway clone IMAGE:100019754 5' read PDE4D mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q08499 (Reactome details) participates in the following event(s):

R-HSA-111962 cAMP hydrolysis by PDE 4
R-HSA-418553 cAMP degradation by Phosphodiesterases
R-HSA-180024 DARPP-32 events
R-HSA-111885 Opioid Signalling
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DPDE3, NM_001197222, NP_001184151, Q08499-4
UCSC ID: uc003jru.3
RefSeq Accession: NM_001197222
Protein: Q08499-4

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001197222.1
exon count: 10CDS single in 3' UTR: no RNA size: 7801
ORF size: 1758CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3716.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 541# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.