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 ... See more...

Aliases for PDE4D Gene

Aliases for PDE4D Gene

  • Phosphodiesterase 4D 2 3 5
  • CAMP-Specific 3',5'-Cyclic Phosphodiesterase 4D 2 3 4
  • 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 Phosphodiesterase PDE4D6 3
  • Phosphodiesterase 4D, CAMP-Specific 2
  • Testicular Tissue Protein Li 136 3
  • EC 50
  • EC 4
  • EC 3.1.4 50
  • ACRDYS2 3
  • HSPDE4D 3
  • PDE4DN2 3
  • STRK1 3
  • PDE4D 5

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 Acrodysostosis With Multiple Hormone Resistance. Among its related pathways are Signaling by GPCR and Signal transduction_PKA signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is PDE4A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDE4D Gene

Genomics for PDE4D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDE4D Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE4D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDE4D

Top Transcription factor binding sites by QIAGEN in the PDE4D gene promoter:
  • CREB
  • deltaCREB
  • HNF-3beta
  • Nkx2-5
  • Sox9

Genomic Locations for PDE4D Gene

Latest Assembly
1,555,292 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
1,527,249 bases
Minus strand

(GRCh37/hg19 by Ensembl)
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.
    • [Isoform 3]: Activated by phosphorylation at Ser-53. Mutagenesis of Ser-54 abolishes activation.

    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

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PDE4D Gene

GenScript: Design optimal peptide antigens:
  • 3'5' cyclic nucleotide phosphodiesterase 4D splice variant 1 (O43862_HUMAN)
  • CAMP-specific phosphodiesterase 4D (Q9HCX6_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic AMP + H2O = AMP + H(+); Xref=Rhea:RHEA:25277, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58165, ChEBI:CHEBI:456215; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by rolipram. Activated by phosphatidic acid.
GENATLAS Biochemistry:
cAMP specific nucleotide phosphodiesterase class IV,D,with homology to Drosophila dunce gene,involved in signal transduction

Enzyme Numbers (IUBMB) for PDE4D Gene

Phenotypes From GWAS Catalog 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 IEA,IGI 8413254
GO:0005515 protein binding IPI 17620599
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
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

miRNA for PDE4D Gene

miRTarBase miRNAs that target PDE4D

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDE4D

Clone products for research

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
cytosol 5
nucleus 4
cytoskeleton 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDE4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PDE4D: view

Pathways & Interactions for PDE4D Gene

PathCards logo

SuperPathways for PDE4D Gene

SuperPathway Contained pathways
1 Signaling by GPCR
2 DAG and IP3 signaling
3 Sweet Taste Signaling
4 Regulation of CFTR activity (norm and CF)
5 cAMP signaling pathway
genes like me logo Genes that share pathways with PDE4D: view

Pathways by source for PDE4D Gene

4 GeneGo (Thomson Reuters) pathways for PDE4D Gene
  • Development Beta-adrenergic receptors signaling via cAMP
  • Regulation of CFTR activity (norm and CF)
  • Regulation of CFTR gating (normal and CF)
  • Signal transduction_PKA signaling
2 Qiagen pathways for PDE4D Gene
  • Cellular Effects of Sildenafil
  • Sperm Motility

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 IEA --
GO:0007165 signal transduction IEA,IBA 21873635
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0010469 regulation of signaling receptor activity ISS --
genes like me logo Genes that share ontologies with PDE4D: view

Drugs & Compounds for PDE4D Gene

(62) Drugs for PDE4D Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dyphylline Approved Pharma Target, inhibitor 2
Roflumilast Approved Pharma Target, inhibitor PDE-4 inhibitor 0
Iloprost Approved, Investigational Pharma Target, inducer Prostacyclin (PGI2) analog, Others 97
Adenosine monophosphate Approved, Investigational Nutra Target, product of 0
Amrinone Approved Pharma Target, inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inhibitor, Inhibition
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
  • 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)
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)

(5) Tocris Compounds for PDE4D Gene

Compound Action Cas Number
Eggmanone Potent and selective PDE4 inhibitor; suppresses hedgehog signaling 505068-32-6
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
IBMX PDE inhibitor (non-selective) 28822-58-4
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5

(9) ApexBio Compounds for PDE4D Gene

Compound Action Cas Number
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
Irsogladine PDE4 inhibitor 57381-26-7
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

Drug products for research

Transcripts for PDE4D Gene

mRNA/cDNA for PDE4D Gene

27 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDE4D

Clone products for research

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

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, MaxQB, and MOPED for PDE4D Gene

Protein tissue co-expression partners for PDE4D Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDE4D

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.

Evidence on tissue expression from TISSUES for PDE4D Gene

  • Nervous system(4.6)
  • Heart(4.5)
  • Blood(4.4)
  • Muscle(3.1)
  • Kidney(2.4)
  • Lung(2.3)
  • Intestine(2.1)
  • Liver(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE4D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
  • tooth
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PDE4D: view

Primer products for research

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 29 30
  • 99.46 (n)
(Monodelphis domestica)
Mammalia PDE4D 30
  • 95 (a)
(Canis familiaris)
Mammalia PDE4D 29 30
  • 93.42 (n)
(Ornithorhynchus anatinus)
Mammalia PDE4D 30
  • 93 (a)
(Bos Taurus)
Mammalia PDE4D 29 30
  • 92.16 (n)
(Rattus norvegicus)
Mammalia Pde4d 29
  • 90.23 (n)
(Mus musculus)
Mammalia Pde4d 30
  • 88 (a)
(Gallus gallus)
Aves PDE4D 29 30
  • 84.86 (n)
(Anolis carolinensis)
Reptilia PDE4D 30
  • 91 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pde4d 29
  • 82.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21705 29
(Danio rerio)
Actinopterygii pde4d 29 30
  • 75.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta dnc 29 31
  • 60.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000236 29
  • 56.72 (n)
(Caenorhabditis elegans)
Secernentea R153.1a 31
  • 57 (a)
R153.1b 31
  • 57 (a)
pde-4 29
  • 55.97 (n)
Species where no ortholog for PDE4D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolutionary constrained regions (ECRs) for PDE4D: view image
Alliance of Genome Resources:
Additional Orthologs for PDE4D

Paralogs for PDE4D Gene

(17) SIMAP similar genes for PDE4D Gene using alignment to 6 proteins:

  • D6R9L4_HUMAN
genes like me logo Genes that share paralogs with PDE4D: view

Variants for PDE4D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDE4D Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
904060 Benign: Acrodysostosis 2, with or without hormone resistance 58,969,360(-) G/A
904130 Uncertain Significance: Acrodysostosis 2, with or without hormone resistance 58,970,772(-) C/T
904131 Uncertain Significance: Acrodysostosis 2, with or without hormone resistance 58,970,801(-) A/G
904132 Uncertain Significance: Acrodysostosis 2, with or without hormone resistance 58,971,172(-) A/C
904133 Uncertain Significance: Acrodysostosis 2, with or without hormone resistance 58,971,246(-) A/G

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDE4D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for PDE4D Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PDE4D Gene

MalaCards: The human disease database

(22) MalaCards diseases for PDE4D Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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


  • 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}.
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for PDE4D

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 JR (Nature genetics 2003) 3 4 22 40
  2. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. (PMID: 23033274) Lynch DC … Innes AM (Human mutation 2013) 3 4 72
  3. Exome sequencing identifies PDE4D mutations in acrodysostosis. (PMID: 22464252) Lee H … Cohn DH (American journal of human genetics 2012) 3 4 72
  4. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. (PMID: 22464250) Michot C … Cormier-Daire V (American journal of human genetics 2012) 3 4 72
  5. 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 (Cerebrovascular diseases (Basel, Switzerland) 2010) 3 22 40

Products for PDE4D Gene

Sources for PDE4D Gene