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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 Phosphodiesterase PDE4D6 3
  • Phosphodiesterase 4D, CAMP-Specific 2
  • Testicular Tissue Protein Li 136 3
  • EC 3.1.4.17 63
  • EC 3.1.4.53 4
  • EC 3.1.4 63
  • 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 Acrodysostosis. Among its related pathways are cAMP signaling pathway and DAG and IP3 signaling. GO annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is PDE7A.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PDE4D on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE4D Gene

Chromosome:
5
Start:
58,969,038 bp from pter
End:
60,522,120 bp from pter
Size:
1,553,083 bases
Orientation:
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:
    Q08499-PDE4D_HUMAN
    Recommended name:
    cAMP-specific 3,5-cyclic phosphodiesterase 4D
    Protein Accession:
    Q08499
    Secondary Accessions:
    • O43433
    • Q13549
    • Q13550
    • Q13551
    • Q7Z2L8
    • Q8IV84
    • Q8IVA9
    • Q8IVD2
    • Q8IVD3
    • Q96HL4
    • Q9HCX7

    Protein attributes for PDE4D Gene

    Size:
    809 amino acids
    Molecular mass:
    91115 Da
    Cofactor:
    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

Proteomics data for PDE4D Gene at MOPED

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

Antibody Products

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

Q08499

UniProtKB/Swiss-Prot:

PDE4D_HUMAN :
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily.
Family:
  • 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:0030552 cAMP binding IDA 9371713
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PDE4D: view

Phenotypes for PDE4D Gene

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

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

COMPARTMENTS
Jensen Localization Image for PDE4D Gene COMPARTMENTS Subcellular localization image for PDE4D gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3
nucleus 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDE4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
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:0007165 signal transduction IEA --
GO:0008152 metabolic process IEA --
GO:0010469 regulation of receptor activity ISS --
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS 16213210
GO:0019933 cAMP-mediated signaling NAS 16177794
genes like me logo Genes that share ontologies with PDE4D: view

Drugs & Compounds for PDE4D Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dyphylline Approved Pharma inhibitor, Target 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 21
Adenosine monophosphate Approved Nutra Target, product of 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ro201724
Inhibition, Inhibitor
PA(16:0/16:0)
  • 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
7091-44-3
PA(16:0/18:1(11Z))
  • 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)
PA(16:0/18:1(9Z))
  • 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)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)

(5) Tocris Compounds for PDE4D Gene

Compound Action Cas Number
Dipyridamole Adenosine transport inhibitor 58-32-2
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
MMPX PDE1 inhibitor 78033-08-6
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5

(2) ApexBio Compounds for PDE4D Gene

Compound Action Cas Number
Apremilast (CC-10004) PDE4 inhibitor 608141-41-9
Cilomilast Potent PDE4 inhibitor 153259-65-5
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:

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: -
SP8:
SP9: - - - - -
SP10:
SP11: - - - - - -

ExUns: 24a · 24b · 24c · 24d · 24e · 24f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for PDE4D Gene

GeneLoc Exon Structure for
PDE4D
ECgene alternative splicing isoforms for
PDE4D

Expression for PDE4D Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PDE4D Gene



SOURCE GeneReport for Unigene cluster for PDE4D Gene Hs.117545

mRNA Expression by UniProt/SwissProt for PDE4D Gene

Q08499-PDE4D_HUMAN
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

Protein tissue co-expression partners for PDE4D Gene

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
cow
(Bos Taurus)
Mammalia PDE4D 35
  • 92.16 (n)
  • 98.79 (a)
PDE4D 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE4D 35
  • 93.42 (n)
  • 98.66 (a)
PDE4D 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDE4D 35
  • 99.46 (n)
  • 99.46 (a)
PDE4D 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde4d 35
  • 90.23 (n)
  • 97.45 (a)
oppossum
(Monodelphis domestica)
Mammalia PDE4D 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde4d 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE4D 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE4D 35
  • 84.86 (n)
  • 95.69 (a)
PDE4D 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE4D 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde4d 35
  • 82.15 (n)
  • 93.58 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21705 35
zebrafish
(Danio rerio)
Actinopterygii pde4d 35
  • 75.16 (n)
  • 88.57 (a)
pde4d 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dnc 37
  • 61 (a)
dnc 35
  • 60.14 (n)
  • 63.02 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000236 35
  • 56.72 (n)
  • 57.87 (a)
worm
(Caenorhabditis elegans)
Secernentea R153.1a 37
  • 57 (a)
R153.1b 37
  • 57 (a)
pde-4 35
  • 55.97 (n)
  • 56.93 (a)
Species with no ortholog for PDE4D:
  • 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

ENSEMBL:
Gene Tree for PDE4D (if available)
TreeFam:
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
VAR_068242 Acrodysostosis 2, with or without hormone resistance (ACRDYS2)
VAR_068243 Acrodysostosis 2, with or without hormone resistance (ACRDYS2)
VAR_068244 Acrodysostosis 2, with or without hormone resistance (ACRDYS2)
VAR_068245 Acrodysostosis 2, with or without hormone resistance (ACRDYS2)
VAR_069448 Acrodysostosis 2, with or without hormone resistance (ACRDYS2)

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

Variant ID Type Subtype PubMed ID
nsv830312 CNV Gain 17160897
esv2730225 CNV Deletion 23290073
nsv830313 CNV Loss 17160897
esv2730226 CNV Deletion 23290073
esv1000440 CNV Deletion 20482838
esv1454268 CNV Deletion 17803354
esv2730227 CNV Deletion 23290073
esv2730229 CNV Deletion 23290073
esv2309169 CNV Deletion 18987734
esv2730230 CNV Deletion 23290073
esv2730231 CNV Deletion 23290073
esv1621306 CNV Deletion 17803354
nsv526881 CNV Gain 19592680
dgv343n21 CNV Loss 19592680
nsv881702 CNV Loss 21882294
nsv4846 CNV Insertion 18451855
nsv327785 CNV Loss 16902084
nsv328137 CNV Loss 16902084
esv2730232 CNV Deletion 23290073
esv268695 CNV Insertion 20981092
esv274312 CNV Insertion 20981092
nsv881703 CNV Loss 21882294
nsv520721 CNV Loss 19592680
nsv881704 CNV Loss 21882294
nsv881705 CNV Loss 21882294
nsv518845 CNV Loss 19592680
esv2730233 CNV Deletion 23290073
esv2730234 CNV Deletion 23290073
esv2730235 CNV Deletion 23290073
nsv881706 CNV Loss 21882294
nsv881707 CNV Loss 21882294
esv275451 CNV Loss 21479260
nsv881708 CNV Loss 21882294
nsv328623 CNV Loss 16902084
nsv462190 CNV Gain 19166990
esv2730236 CNV Deletion 23290073
nsv462191 CNV Loss 19166990
nsv328919 CNV Loss 16902084
nsv515987 CNV Loss 19592680
esv2672705 CNV Deletion 23128226
esv2671492 CNV Deletion 23128226
esv273089 CNV Insertion 20981092
dgv6075n71 CNV Loss 21882294
nsv508361 CNV Loss 20534489
esv2660953 CNV Deletion 23128226
nsv462192 CNV Loss 19166990
nsv830316 CNV Loss 17160897
esv2665396 CNV Deletion 23128226
esv21678 CNV Loss 19812545
esv32579 CNV Loss 17666407
esv2665058 CNV Deletion 23128226
nsv4847 CNV Loss 18451855
esv270152 CNV Insertion 20981092
esv274157 CNV Insertion 20981092
esv268638 CNV Insertion 20981092
nsv4848 CNV Insertion 18451855
esv2730237 CNV Deletion 23290073
esv272601 CNV Insertion 20981092
nsv4849 CNV Insertion 18451855
dgv705n27 CNV Gain 19166990
nsv516823 CNV Gain 19592680
nsv881711 CNV Gain 21882294
esv9436 CNV Gain 19470904

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)
PDE4D

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

Disorders for PDE4D Gene

MalaCards: The human disease database

(8) 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

UniProtKB/Swiss-Prot

PDE4D_HUMAN
  • 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)
PDE4D
Human Genome Epidemiology (HuGE) Navigator
PDE4D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDE4D
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 23 48 67
  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 23
  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 23
  4. Phosphodiesterase 4D gene polymorphism is associated with ischaemic and haemorrhagic stroke. (PMID: 18694398) Xue H. … Hui R. (Clin. Sci. 2009) 3 23
  5. Association between the PDE4D gene and ischaemic stroke in the Chinese Han population. (PMID: 19196240) Sun Y. … He L. (Clin. Sci. 2009) 3 23

Products for PDE4D Gene

Sources for PDE4D Gene

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