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Aliases for PDE8B Gene

Aliases for PDE8B Gene

  • Phosphodiesterase 8B 2 3 5
  • Cell Proliferation-Inducing Gene 22 Protein 3 4
  • High Affinity CAMP-Specific And IBMX-Insensitive 3,5-Cyclic Phosphodiesterase 8B 3
  • 3,5 Cyclic Nucleotide Phosphodiesterase 8B 3
  • EC 61
  • EC 4
  • HsPDE8B 4
  • PPNAD3 3
  • ADSD 3

External Ids for PDE8B Gene

Previous GeneCards Identifiers for PDE8B Gene

  • GC05P075312
  • GC05P076741
  • GC05P076545
  • GC05P076590
  • GC05P076542
  • GC05P071714

Summaries for PDE8B Gene

Entrez Gene Summary for PDE8B Gene

  • The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]

GeneCards Summary for PDE8B Gene

PDE8B (Phosphodiesterase 8B) is a Protein Coding gene. Diseases associated with PDE8B include Striatal Degeneration, Autosomal Dominant and Pigmented Nodular Adrenocortical Disease, Primary, 3. Among its related pathways are GABAergic synapse and Signaling by GPCR. GO annotations related to this gene include signal transducer activity and 3,5-cyclic-AMP phosphodiesterase activity. An important paralog of this gene is PDE8A.

UniProtKB/Swiss-Prot for PDE8B Gene

  • Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland.

Tocris Summary for PDE8B 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 PDE8B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE8B Gene

Genomics for PDE8B Gene

Regulatory Elements for PDE8B Gene

Enhancers for PDE8B 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
GH05G077490 1.1 ENCODE 34.8 +311.4 311420 2.8 HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 PDE8B WDR41 GC05M077504 GC05M077427
GH05G077379 0.8 ENCODE 18.6 +199.5 199515 0.9 TBP PKNOX1 BMI1 CBX5 ZNF143 ZNF207 RELB ETV6 IKZF2 CREM PDE8B GC05M077395 GC05P077342
GH05G077486 0.5 ENCODE 19.4 +306.4 306361 0.7 ZNF335 MTA2 MLLT1 FOS PDE8B GC05M077504 GC05M077427
GH05G077144 0.7 ENCODE 10.4 -35.6 -35552 0.2 CTCF ZNF654 ZNF10 TRIM22 REST ZNF2 RAD21 YY1 SMC3 ZNF143 PDE8B ZBED3-AS1 LOC100422441 HMGB1P35 ZBED3
GH05G077166 1.2 Ensembl ENCODE 5.1 -12.1 -12083 3.3 PKNOX1 SIN3A BRCA1 KLF7 FOS ZNF263 YY2 ZHX2 ZNF662 ZNF491 AGGF1 PDE8B HMGB1P35
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDE8B on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE8B Gene

77,180,262 bp from pter
77,429,807 bp from pter
249,546 bases
Plus strand

Genomic View for PDE8B Gene

Genes around PDE8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE8B Gene

Proteins for PDE8B Gene

  • Protein details for PDE8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    High affinity cAMP-specific and IBMX-insensitive 3,5-cyclic phosphodiesterase 8B
    Protein Accession:
    Secondary Accessions:
    • Q5J7V7
    • Q86XK8
    • Q8IUJ7
    • Q8IUJ8
    • Q8IUJ9
    • Q8IUK0
    • Q8N3T2

    Protein attributes for PDE8B Gene

    885 amino acids
    Molecular mass:
    98979 Da
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PDE8B Gene

neXtProt entry for PDE8B Gene

Selected DME Specific Peptides for PDE8B Gene


Post-translational modifications for PDE8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PDE8B Gene

Gene Families for PDE8B Gene

Suggested Antigen Peptide Sequences for PDE8B Gene

Graphical View of Domain Structure for InterPro Entry



  • Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain.
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily.
  • Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain.
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily.
genes like me logo Genes that share domains with PDE8B: view

Function for PDE8B Gene

Molecular function for PDE8B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine 3,5-cyclic phosphate + H(2)O = adenosine 5-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by dipyridimole. Insensitive to selective PDE inhibitors including rolipram and milrinone as well as to the non-selective inhibitor, IBMX. Unaffected by cGMP.
UniProtKB/Swiss-Prot Function:
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland.

Enzyme Numbers (IUBMB) for PDE8B Gene

Gene Ontology (GO) - Molecular Function for PDE8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004114 3,5-cyclic-nucleotide phosphodiesterase activity NAS 9784418
GO:0004115 3,5-cyclic-AMP phosphodiesterase activity TAS --
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PDE8B: view
genes like me logo Genes that share phenotypes with PDE8B: view

Human Phenotype Ontology for PDE8B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDE8B Gene

MGI Knock Outs for PDE8B:

Animal Model Products

CRISPR Products

miRNA for PDE8B Gene

miRTarBase miRNAs that target PDE8B

No data available for Transcription Factor Targets and HOMER Transcription for PDE8B Gene

Localization for PDE8B Gene

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 PDE8B gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PDE8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PDE8B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PDE8B Gene

Pathways & Interactions for PDE8B Gene

genes like me logo Genes that share pathways with PDE8B: view

Pathways by source for PDE8B Gene

2 KEGG pathways for PDE8B Gene

UniProtKB/Swiss-Prot O95263-PDE8B_HUMAN

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

Interacting Proteins for PDE8B Gene

Gene Ontology (GO) - Biological Process for PDE8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006198 cAMP catabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0009187 cyclic nucleotide metabolic process NAS 9784418
GO:0046676 negative regulation of insulin secretion IEA --
genes like me logo Genes that share ontologies with PDE8B: view

No data available for SIGNOR curated interactions for PDE8B Gene

Drugs & Compounds for PDE8B Gene

(14) Drugs for PDE8B Gene - From: DrugBank, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dipyridamole Approved Pharma Inhibition, Inhibitor, inhibitor Adenosine transport inhibitor 83
Caffeine Approved Nutra Antagonist, Target A1 and A2B antagonist. CNS stimulant 396
Cafcit Injection Approved September 1999 Pharma 0
Ketotifen Approved Pharma 22
Water Approved Pharma 0

(1) Additional Compounds for PDE8B Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Antagonist 28822-58-4

(5) Tocris Compounds for PDE8B 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
genes like me logo Genes that share compounds with PDE8B: view

Transcripts for PDE8B Gene

Unigene Clusters for PDE8B Gene

Phosphodiesterase 8B:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE8B Gene

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

Relevant External Links for PDE8B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDE8B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDE8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE8B Gene

This gene is overexpressed in Thyroid (x6.5).

Protein differential expression in normal tissues from HIPED for PDE8B Gene

This gene is overexpressed in Prostate (35.8) and Retina (33.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDE8B Gene

Protein tissue co-expression partners for PDE8B Gene

NURSA nuclear receptor signaling pathways regulating expression of PDE8B Gene:


SOURCE GeneReport for Unigene cluster for PDE8B Gene:


mRNA Expression by UniProt/SwissProt for PDE8B Gene:

Tissue specificity: Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and placenta. In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta isoforms 1 and 2 are expressed equally. In the brain isoform 2 predominates.

Evidence on tissue expression from TISSUES for PDE8B Gene

  • Thyroid gland(4.6)
  • Nervous system(4.5)
  • Muscle(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE8B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
  • adrenal gland
  • kidney
  • pancreas
  • pelvis
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PDE8B: view

Primer Products

Orthologs for PDE8B Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE8B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDE8B 34 35
  • 99.18 (n)
(Monodelphis domestica)
Mammalia PDE8B 35
  • 93 (a)
(Canis familiaris)
Mammalia PDE8B 34 35
  • 92.52 (n)
(Rattus norvegicus)
Mammalia Pde8b 34
  • 90.45 (n)
(Mus musculus)
Mammalia Pde8b 34 16 35
  • 90.21 (n)
(Bos Taurus)
Mammalia PDE8B 34 35
  • 87.84 (n)
(Ornithorhynchus anatinus)
Mammalia PDE8B 35
  • 82 (a)
(Gallus gallus)
Aves PDE8B 34 35
  • 79.68 (n)
(Anolis carolinensis)
Reptilia PDE8B 35
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pde8b 34
  • 76.91 (n)
(Danio rerio)
Actinopterygii pde8b 34 35
  • 71.88 (n)
Dr.11295 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007163 34
  • 51.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pde8 34 35
  • 50.54 (n)
CG5411 36
  • 49 (a)
(Caenorhabditis elegans)
Secernentea Y95B8A.10 36
  • 39 (a)
pde-6 35
  • 30 (a)
Species where no ortholog for PDE8B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 PDE8B Gene

Gene Tree for PDE8B (if available)
Gene Tree for PDE8B (if available)

Paralogs for PDE8B Gene

Paralogs for PDE8B Gene

(9) SIMAP similar genes for PDE8B Gene using alignment to 6 proteins: Pseudogenes for PDE8B Gene

genes like me logo Genes that share paralogs with PDE8B: view

Variants for PDE8B Gene

Sequence variations from dbSNP and Humsavar for PDE8B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121918360 Pathogenic, Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190] 77,349,456(+) CTACC(A/C)CAAAG intron-variant, reference, missense
rs878853157 Pathogenic 77,211,004(+) CGCCC(-/C)GCCAG intron-variant, reference, frameshift-variant, utr-variant-5-prime
rs878853158 Pathogenic 77,211,229(+) GCGCC(G/T)AGGCC intron-variant, reference, stop-gained, utr-variant-5-prime
rs112049153 Likely benign 77,419,782(+) CGAAC(A/G)CTGCG reference, synonymous-codon
rs114017128 Likely benign 77,353,391(+) ACCAC(C/T)GACAA intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PDE8B Gene

Variant ID Type Subtype PubMed ID
dgv3099n106 CNV deletion 24896259
dgv9887n54 CNV gain 21841781
dgv9888n54 CNV loss 21841781
esv1478247 CNV insertion 17803354
esv25490 CNV loss 19812545
esv2619324 CNV insertion 19546169
esv2640816 CNV deletion 19546169
esv29763 CNV loss 19812545
esv3307453 CNV mobile element insertion 20981092
esv3605484 CNV loss 21293372
esv5973 CNV gain 19470904
nsv1073468 CNV deletion 25765185
nsv469515 CNV loss 16826518
nsv4889 CNV insertion 18451855
nsv507265 OTHER sequence alteration 20534489
nsv598693 CNV loss 21841781
nsv598699 CNV loss 21841781
nsv980688 CNV duplication 23825009

Variation tolerance for PDE8B Gene

Residual Variation Intolerance Score: 8.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDE8B 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 PDE8B Gene

Disorders for PDE8B Gene

MalaCards: The human disease database

(7) MalaCards diseases for PDE8B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDE8B in MalaCards View complete list of genes associated with diseases


  • Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269 PubMed:18431404}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Striatal degeneration, autosomal dominant 1 (ADSD1) [MIM:609161]: A movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. {ECO:0000269 PubMed:20085714}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PDE8B

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 PDE8B: view

No data available for Genatlas for PDE8B Gene

Publications for PDE8B Gene

  1. Molecular cloning and characterization of human PDE8B, a novel thyroid-specific isozyme of 3',5'-cyclic nucleotide phosphodiesterase. (PMID: 9784418) Hayashi M. … Tanaka T. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. (PMID: 20085714) Appenzeller S. … Kuhlenbaumer G. (Am. J. Hum. Genet. 2010) 3 4 22 64
  3. Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. (PMID: 19429701) Bimpaki E.I. … Stratakis C.A. (Eur. J. Endocrinol. 2009) 3 22 46 64
  4. Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. (PMID: 19820008) Shields B.M. … Vaidya B. (J. Clin. Endocrinol. Metab. 2009) 3 22 46 64
  5. A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. (PMID: 18431404) Horvath A. … Stratakis C.A. (Eur. J. Hum. Genet. 2008) 3 4 22 64

Products for PDE8B Gene

Sources for PDE8B Gene

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