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Aliases for PDE4D Gene

Aliases for PDE4D Gene

  • Phosphodiesterase 4D 2 3 5
  • DPDE3 3 4
  • PDE43 3 4
  • Phosphodiesterase 4D, CAMP-Specific (Dunce (Drosophila)-Homolog Phosphodiesterase E3) 2
  • Phosphodiesterase 4D, CAMP-Specific (Phosphodiesterase E3 Dunce Homolog, Drosophila) 3
  • Phosphodiesterase E3 Dunce Homolog (Drosophila) 2
  • CAMP-Specific 3,5-Cyclic Phosphodiesterase 4D 3
  • CAMP-Specific Phosphodiesterase PDE4D6 3
  • Phosphodiesterase 4D, CAMP-Specific 2
  • Testicular Tissue Protein Li 136 3
  • EC 61
  • EC 4
  • EC 3.1.4 61
  • ACRDYS2 3
  • HSPDE4D 3
  • PDE4DN2 3
  • STRK1 3

External Ids for PDE4D Gene

Previous HGNC Symbols for PDE4D Gene

  • DPDE3

Previous GeneCards Identifiers for PDE4D Gene

  • GC05M058430
  • GC05M059822
  • GC05M058237
  • GC05M058285
  • GC05M058302
  • GC05M055222

Summaries for PDE4D Gene

Entrez Gene Summary for PDE4D Gene

  • 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]

GeneCards Summary for PDE4D Gene

PDE4D (Phosphodiesterase 4D) is a Protein Coding gene. Diseases associated with PDE4D include Acrodysostosis 2, With Or Without Hormone Resistance and Chromosome 5Q12 Deletion Syndrome. Among its related pathways are Signaling by GPCR and Purine metabolism (KEGG). GO annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is PDE4B.

UniProtKB/Swiss-Prot for PDE4D Gene

  • Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.

Tocris Summary for PDE4D Gene

  • Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.

Gene Wiki entry for PDE4D Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE4D Gene

Genomics for PDE4D Gene

Regulatory Elements for PDE4D Gene

Enhancers for PDE4D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F060463 1.2 Ensembl ENCODE 10.6 +58.6 58621 0.9 ZFP64 SIN3A ZNF48 ZBTB40 RARA ZNF335 GATA4 ZNF366 CREM MIXL1 PART1 RPL31P8 PDE4D ERCC8 SETP21 ENSG00000273701
GH05F060487 0.9 ENCODE 10.5 +33.8 33809 2.4 ATF1 ARID4B THRB ZSCAN9 RAD21 RARA CREM SP5 MAFF RCOR2 RPL31P8 PDE4D LOC100421309 ENSG00000275634
GH05F060496 0.7 ENCODE 11.6 +25.7 25722 0.8 GATAD2A ELF3 SOX5 SOX13 PKNOX1 SAP130 FOXA3 HMG20A ZNF644 ZGPAT PDE4D RPL31P8 ENSG00000275634
GH05F060498 0.6 ENCODE 11.5 +24.0 23952 0.2 GATAD2A ZNF133 CREM ZNF644 HOMEZ RXRB PDE4D RPL31P8 ENSG00000275634
GH05F059788 1.4 FANTOM5 Ensembl ENCODE 4.1 +731.6 731649 3.0 GTF2F1 TBP PKNOX1 TAF1 JUN MAX ZIC2 ZFHX2 POLR2A ZNF366 PDE4D LOC105378988 LOC105378987
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDE4D on UCSC Golden Path with GeneCards custom track

Promoters for PDE4D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001281195 -80 401 TBL1XR1 MTA2 ZNF133 ZNF384 EP300 POLR2A CBX5 IKZF1 MYB NBN

Genomic Location for PDE4D Gene

58,969,038 bp from pter
60,522,120 bp from pter
1,553,083 bases
Minus strand

Genomic View for PDE4D Gene

Genes around PDE4D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE4D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE4D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE4D Gene

Proteins for PDE4D Gene

  • Protein details for PDE4D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    cAMP-specific 3,5-cyclic phosphodiesterase 4D
    Protein Accession:
    Secondary Accessions:
    • O43433
    • Q13549
    • Q13550
    • Q13551
    • Q7Z2L8
    • Q8IV84
    • Q8IVA9
    • Q8IVD2
    • Q8IVD3
    • Q96HL4
    • Q9HCX7

    Protein attributes for PDE4D Gene

    809 amino acids
    Molecular mass:
    91115 Da
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer for the long isoforms. Isoforms with truncated N-termini are monomeric. Isoform 3 is part of a ternary complex containing PRKAR2A, PRKAR2B and AKAP9. Interacts with PDE4DIP. Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1) (By similarity). Isoform 5, isoform N3 and isoform 12 bind RACK1 via their unique N-terminus. Binds ARRB2. Interacts (via N-terminal region) with SHANK2 (via proline-rich region); the interaction is increased in a PKA-dependent manner.

    Three dimensional structures from OCA and Proteopedia for PDE4D Gene

    Alternative splice isoforms for PDE4D Gene

neXtProt entry for PDE4D Gene

Selected DME Specific Peptides for PDE4D Gene


Post-translational modifications for PDE4D Gene

  • Long isoforms that share a conserved PKA phosphorylation site in the N-terminus are activated by PKA through phosphorylation (By similarity). Isoform 3 and isoform 7 are activated by phosphorylation (in vitro), but not isoform 6. Isoform N3 and isoform 12 are phosphorylated on Ser-49, Ser-51, Ser-55 and Ser-59.
  • Sumoylation of long isoforms by PIAS4 augments their activation by PKA phosphorylation and represses their inhibition by ERK phosphorylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PDE4D Gene

Gene Families for PDE4D Gene

Protein Domains for PDE4D Gene

Suggested Antigen Peptide Sequences for PDE4D Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily.
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily.
genes like me logo Genes that share domains with PDE4D: view

Function for PDE4D Gene

Molecular function for PDE4D Gene

GENATLAS Biochemistry:
cAMP specific nucleotide phosphodiesterase class IV,D,with homology to Drosophila dunce gene,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine 3,5-cyclic phosphate + H(2)O = adenosine 5-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by rolipram. Activated by phosphatidic acid.
UniProtKB/Swiss-Prot Function:
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.

Enzyme Numbers (IUBMB) for PDE4D Gene

Gene Ontology (GO) - Molecular Function for PDE4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004114 3,5-cyclic-nucleotide phosphodiesterase activity IEA,NAS 10913353
GO:0004115 3,5-cyclic-AMP phosphodiesterase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0008144 drug binding IPI 9371713
genes like me logo Genes that share ontologies with PDE4D: view
genes like me logo Genes that share phenotypes with PDE4D: view

Human Phenotype Ontology for PDE4D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PDE4D Gene

Localization for PDE4D Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE4D Gene

Apical cell membrane. Cytoplasm. Membrane. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Found in the soluble fraction, associated with membranes, and associated with the cytoskeleton and the centrosome (By similarity). Colocalized with SHANK2 to the apical membrane of colonic crypt cells. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE4D gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDE4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PDE4D: view

Pathways & Interactions for PDE4D Gene

genes like me logo Genes that share pathways with PDE4D: view

UniProtKB/Swiss-Prot Q08499-PDE4D_HUMAN

  • Pathway: Purine metabolism; 3,5-cyclic AMP degradation; AMP from 3,5-cyclic AMP: step 1/1.

SIGNOR curated interactions for PDE4D Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PDE4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate ISS 16213210
GO:0006198 cAMP catabolic process IGI,IMP 19252089
GO:0006939 smooth muscle contraction IEA --
GO:0007165 signal transduction IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with PDE4D: view

Drugs & Compounds for PDE4D Gene

(50) Drugs for PDE4D Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dyphylline Approved Pharma inhibitor, Target 0
Roflumilast Approved Pharma Target, inhibitor PDE-4 inhibitor 0
Ibudilast Approved, Investigational Pharma Target, inhibitor 11
Iloprost Approved, Investigational Pharma Full agonist, Agonist, Target, inducer Others, Prostacyclin (PGI2) analog 77
Ketotifen Approved Pharma Target, inhibitor 22

(14) Additional Compounds for PDE4D Gene - From: HMDB, Novoseek, Tocris, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Antagonist 28822-58-4
Inhibition, Inhibitor
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)

(5) Tocris Compounds for PDE4D Gene

Compound Action Cas Number
(R)-(-)-Rolipram PDE4 inhibitor. More active enantiomer of rolipram (Cat. No. 0905) 85416-75-7
IBMX PDE inhibitor (non-selective) 28822-58-4
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor 40297-09-4
Rolipram PDE4 inhibitor 61413-54-5
Sildenafil citrate Orally active, potent PDE5 inhibitor 171599-83-0

(12) ApexBio Compounds for PDE4D Gene

Compound Action Cas Number
(R)-(-)-Rolipram 85416-75-7
AN-2728 PDE4 inhibitor,anti-inflammatory compound 906673-24-3
Apremilast (CC-10004) PDE4 inhibitor 608141-41-9
CDP 840 hydrochloride PDE4 inhibitor,potent and selective 162542-90-7
Cilomilast Potent PDE4 inhibitor 153259-65-5
GSK256066 PDE4-inhibitor,selective and highly potent 801312-28-7
GSK256066 2,2,2-trifluoroacetic acid PDE4 inhibitor 1415560-64-3
Irsogladine PDE4 inhibitor 57381-26-7
Oglemilast Potent PDE4 inhibitor 778576-62-8
Roflumilast PDE-4 inhibitor 162401-32-3
Rolipram PDE4-inhibitor and an anti-inflammatory agent 61413-54-5
S- (+)-Rolipram CAMP-specific PDE4 inhibitor 85416-73-5
genes like me logo Genes that share compounds with PDE4D: view

Transcripts for PDE4D Gene

Unigene Clusters for PDE4D Gene

Phosphodiesterase 4D, cAMP-specific:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE4D Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: -
SP7: -
SP9: - - - - -
SP11: - - - - - -

ExUns: 24a · 24b · 24c · 24d · 24e · 24f

Relevant External Links for PDE4D Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDE4D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDE4D Gene

mRNA differential expression in normal tissues according to GTEx for PDE4D Gene

This gene is overexpressed in Muscle - Skeletal (x10.6).

Protein differential expression in normal tissues from HIPED for PDE4D Gene

This gene is overexpressed in Urinary Bladder (11.2), Fetal Brain (10.4), Brain (8.1), Lung (7.4), and Prostate (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDE4D Gene

Protein tissue co-expression partners for PDE4D Gene

NURSA nuclear receptor signaling pathways regulating expression of PDE4D Gene:


SOURCE GeneReport for Unigene cluster for PDE4D Gene:


mRNA Expression by UniProt/SwissProt for PDE4D Gene:

Tissue specificity: Expressed in colonic epithelial cells (at protein level). Widespread; most abundant in skeletal muscle. Isoform 6 is detected in brain. Isoform 8 is detected in brain, placenta, lung and kidney. Isoform 7 is detected in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with PDE4D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PDE4D Gene

Orthologs for PDE4D Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE4D Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDE4D 34 35
  • 99.46 (n)
(Monodelphis domestica)
Mammalia PDE4D 35
  • 95 (a)
(Canis familiaris)
Mammalia PDE4D 34 35
  • 93.42 (n)
(Ornithorhynchus anatinus)
Mammalia PDE4D 35
  • 93 (a)
(Bos Taurus)
Mammalia PDE4D 34 35
  • 92.16 (n)
(Rattus norvegicus)
Mammalia Pde4d 34
  • 90.23 (n)
(Mus musculus)
Mammalia Pde4d 35
  • 88 (a)
(Gallus gallus)
Aves PDE4D 34 35
  • 84.86 (n)
(Anolis carolinensis)
Reptilia PDE4D 35
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pde4d 34
  • 82.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21705 34
(Danio rerio)
Actinopterygii pde4d 34 35
  • 75.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta dnc 36 34
  • 60.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000236 34
  • 56.72 (n)
(Caenorhabditis elegans)
Secernentea R153.1a 36
  • 57 (a)
R153.1b 36
  • 57 (a)
pde-4 34
  • 55.97 (n)
Species where no ortholog for PDE4D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDE4D Gene

Gene Tree for PDE4D (if available)
Gene Tree for PDE4D (if available)

Paralogs for PDE4D Gene

Paralogs for PDE4D Gene

genes like me logo Genes that share paralogs with PDE4D: view

Variants for PDE4D Gene

Sequence variations from dbSNP and Humsavar for PDE4D Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs397514464 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613], Pathogenic 59,193,511(-) TGACT(A/C)CATTT reference, missense, utr-variant-5-prime
rs397514465 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613], Pathogenic 59,193,507(-) TCCAT(C/G/T)TGCTC reference, missense, utr-variant-5-prime
rs397514466 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613], Pathogenic 59,215,856(-) GGGAG(G/T)CCTTC reference, missense, utr-variant-5-prime
rs397514467 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613], Pathogenic 58,976,421(-) TGAAG(A/C)CTATG reference, missense
rs397514468 Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613], Pathogenic 59,193,502(-) TTGCT(C/G)AGGTA reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PDE4D Gene

Variant ID Type Subtype PubMed ID
nsv598253 CNV loss 21841781
nsv598254 CNV loss 21841781
nsv598255 CNV gain 21841781
nsv598252 CNV loss 21841781
nsv526881 CNV gain 19592680
nsv520721 CNV loss 19592680
nsv518845 CNV loss 19592680
nsv516823 CNV gain 19592680
nsv515987 CNV loss 19592680
nsv508361 CNV deletion 20534489
nsv4849 CNV insertion 18451855
nsv4848 CNV insertion 18451855
nsv4847 CNV deletion 18451855
nsv4846 CNV insertion 18451855
nsv475541 CNV novel sequence insertion 20440878
nsv474210 CNV novel sequence insertion 20440878
nsv473624 CNV novel sequence insertion 20440878
nsv472489 CNV novel sequence insertion 20440878
nsv462192 CNV loss 19166990
nsv462191 CNV loss 19166990
nsv462190 CNV gain 19166990
nsv328919 CNV deletion 16902084
nsv328623 CNV deletion 16902084
nsv328137 CNV deletion 16902084
nsv327785 CNV deletion 16902084
nsv1136999 CNV deletion 24896259
nsv1130837 CNV deletion 24896259
nsv1123949 CNV deletion 24896259
nsv1121646 CNV deletion 24896259
nsv1117559 CNV deletion 24896259
nsv1112421 CNV deletion 24896259
nsv1109700 CNV deletion 24896259
nsv1033344 CNV gain 25217958
nsv1032887 CNV loss 25217958
nsv1032308 CNV gain 25217958
nsv1030716 CNV loss 25217958
nsv1030117 CNV loss 25217958
nsv1027171 CNV loss 25217958
nsv1025807 CNV loss 25217958
nsv1023570 CNV loss 25217958
nsv1018614 CNV loss 25217958
nsv1018504 CNV gain 25217958
esv9436 CNV gain 19470904
esv3605189 CNV loss 21293372
esv3605184 CNV loss 21293372
esv3605181 CNV loss 21293372
esv3605180 CNV loss 21293372
esv3605179 CNV gain 21293372
esv3605178 CNV loss 21293372
esv3605177 CNV loss 21293372
esv3605174 CNV loss 21293372
esv3605173 CNV loss 21293372
esv3605171 CNV loss 21293372
esv3605170 CNV loss 21293372
esv3605167 CNV loss 21293372
esv3570167 CNV loss 25503493
esv3570166 CNV loss 25503493
esv3570164 CNV loss 25503493
esv3565974 CNV deletion 23714750
esv3565971 CNV deletion 23714750
esv3431935 CNV insertion 20981092
esv3431620 CNV insertion 20981092
esv3423330 CNV insertion 20981092
esv3404995 CNV insertion 20981092
esv3393330 CNV insertion 20981092
esv3375385 CNV insertion 20981092
esv3356755 CNV insertion 20981092
esv3309885 CNV mobile element insertion 20981092
esv3308816 CNV mobile element insertion 20981092
esv3308327 CNV mobile element insertion 20981092
esv3305875 CNV mobile element insertion 20981092
esv3304359 CNV mobile element insertion 20981092
esv32579 CNV loss 17666407
esv2763904 CNV gain 21179565
esv2760953 CNV loss 21179565
esv275451 CNV loss 21479260
esv2730237 CNV deletion 23290073
esv2730236 CNV deletion 23290073
esv2730235 CNV deletion 23290073
esv2730234 CNV deletion 23290073
esv2730233 CNV deletion 23290073
esv2730232 CNV deletion 23290073
esv2730231 CNV deletion 23290073
esv2730230 CNV deletion 23290073
esv2730229 CNV deletion 23290073
esv2730227 CNV deletion 23290073
esv2730226 CNV deletion 23290073
esv2730225 CNV deletion 23290073
esv2672705 CNV deletion 23128226
esv2671492 CNV deletion 23128226
esv2665396 CNV deletion 23128226
esv2665058 CNV deletion 23128226
esv2660953 CNV deletion 23128226
esv2309169 CNV deletion 18987734
esv21678 CNV loss 19812545
esv1621306 CNV deletion 17803354
esv1454268 CNV deletion 17803354
esv1000440 CNV deletion 20482838
dgv9807n54 CNV gain 21841781
dgv9806n54 CNV gain 21841781
dgv9805n54 CNV loss 21841781
dgv9804n54 CNV loss 21841781
dgv9803n54 CNV loss 21841781
dgv9802n54 CNV loss 21841781
dgv9801n54 CNV loss 21841781
dgv9800n54 CNV loss 21841781
dgv705n27 CNV gain 19166990
dgv5687n100 CNV gain 25217958
dgv5686n100 CNV gain 25217958
dgv5685n100 CNV gain 25217958
dgv5684n100 CNV loss 25217958
dgv5683n100 CNV loss 25217958
dgv5682n100 CNV loss 25217958
dgv357e215 CNV deletion 23714750
dgv343n21 CNV loss 19592680
dgv1611e212 CNV gain 25503493
dgv1102e214 CNV gain 21293372
dgv1101e214 CNV gain 21293372
nsv968915 CNV duplication 23825009
nsv968178 CNV duplication 23825009
nsv950065 CNV deletion 24416366
nsv830316 CNV loss 17160897
nsv830313 CNV loss 17160897
nsv830312 CNV gain 17160897
nsv598297 CNV loss 21841781
nsv598296 CNV gain 21841781
nsv598288 CNV loss 21841781
nsv598271 CNV loss 21841781
nsv598260 CNV loss 21841781
nsv598259 CNV loss 21841781
nsv598258 CNV gain 21841781

Variation tolerance for PDE4D Gene

Residual Variation Intolerance Score: 8.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDE4D Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE4D Gene

Disorders for PDE4D Gene

MalaCards: The human disease database

(9) MalaCards diseases for PDE4D Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDE4D in MalaCards View complete list of genes associated with diseases


  • Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]: A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. {ECO:0000269 PubMed:22464250, ECO:0000269 PubMed:22464252, ECO:0000269 PubMed:23033274, ECO:0000269 PubMed:23043190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variations in PDE4D might be associated with susceptibility to stroke. PubMed:17006457 states that association with stroke has to be considered with caution. {ECO:0000269 PubMed:17006457}.

Relevant External Links for PDE4D

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PDE4D: view

No data available for Genatlas for PDE4D Gene

Publications for PDE4D Gene

  1. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. (PMID: 14517540) Gretarsdottir S. … Gulcher J.R. (Nat. Genet. 2003) 3 4 22 46 64
  2. Association of PDE4D and IL-1 gene polymorphism with ischemic stroke in a Han Chinese population. (PMID: 19786079) Li N. … Zhang H. (Brain Res. Bull. 2010) 3 22 46 64
  3. Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study. (PMID: 20357438) Domingues-Montanari S. … Montaner J. (Cerebrovasc. Dis. 2010) 3 22 46 64
  4. Phosphodiesterase 4D gene polymorphism is associated with ischaemic and haemorrhagic stroke. (PMID: 18694398) Xue H. … Hui R. (Clin. Sci. 2009) 3 22 46 64
  5. Association between the PDE4D gene and ischaemic stroke in the Chinese Han population. (PMID: 19196240) Sun Y. … He L. (Clin. Sci. 2009) 3 22 46 64

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