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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
  • HsPDE8B 3 4
  • 3,5 Cyclic Nucleotide Phosphodiesterase 8B 3
  • EC 3.1.4.17 63
  • EC 3.1.4.53 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 pigmented nodular adrenocortical disease, primary, 3 and striatal degeneration, autosomal dominant. Among its related pathways are Circadian entrainment and Pyrimidine metabolism (KEGG). GO annotations related to this gene include signal transducer activity and 3,5-cyclic-AMP phosphodiesterase activity. An important paralog of this gene is PDE7A.

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 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 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 PDE8B on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE8B Gene

Chromosome:
5
Start:
77,180,262 bp from pter
End:
77,429,807 bp from pter
Size:
249,546 bases
Orientation:
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:
    O95263-PDE8B_HUMAN
    Recommended name:
    High affinity cAMP-specific and IBMX-insensitive 3,5-cyclic phosphodiesterase 8B
    Protein Accession:
    O95263
    Secondary Accessions:
    • Q5J7V7
    • Q86XK8
    • Q8IUJ7
    • Q8IUJ8
    • Q8IUJ9
    • Q8IUK0
    • Q8N3T2

    Protein attributes for PDE8B Gene

    Size:
    885 amino acids
    Molecular mass:
    98979 Da
    Cofactor:
    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

Proteomics data for PDE8B Gene at MOPED

Selected DME Specific Peptides for PDE8B Gene

Post-translational modifications for PDE8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

O95263

UniProtKB/Swiss-Prot:

PDE8B_HUMAN :
  • 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.
Domain:
  • Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain.
  • Contains 1 PAS (PER-ARNT-SIM) domain.
Family:
  • 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:0004115 3,5-cyclic-AMP phosphodiesterase activity TAS --
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:

miRNA for PDE8B Gene

miRTarBase miRNAs that target PDE8B

In Situ Assay Products

Flow Cytometry Products

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

Localization for PDE8B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDE8B Gene COMPARTMENTS Subcellular localization image for PDE8B gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

None

No data available for SIGNOR curated interactions for PDE8B Gene

Drugs & Compounds for PDE8B Gene

(8) Drugs for PDE8B Gene - From: DrugBank, DGIdb, 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 78
Ketotifen Approved Pharma Target, inhibitor 21
Caffeine Approved Nutra Antagonist, Target, inhibitor, competitive 349
Adenosine monophosphate Approved Nutra 0
cyclic amp Experimental Pharma 0

(5) Additional Compounds for PDE8B Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Etazolate hydrochloride
35838-58-5
MMPX
78033-08-6
MY-5445
78351-75-4
Ro 20-1724
29925-17-5

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

Transcripts for PDE8B Gene

Unigene Clusters for PDE8B Gene

Phosphodiesterase 8B:
Representative Sequences:

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
SP1:
SP2: -
SP3: -
SP4: - - -
SP5: - -
SP6:

Relevant External Links for PDE8B Gene

GeneLoc Exon Structure for
PDE8B
ECgene alternative splicing isoforms for
PDE8B

Expression for PDE8B Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PDE8B Gene



SOURCE GeneReport for Unigene cluster for PDE8B Gene Hs.584830

mRNA Expression by UniProt/SwissProt for PDE8B Gene

O95263-PDE8B_HUMAN
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.
genes like me logo Genes that share expression patterns with PDE8B: view

Protein tissue co-expression partners for PDE8B Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia PDE8B 35
  • 87.84 (n)
  • 93.14 (a)
PDE8B 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE8B 35
  • 92.52 (n)
  • 97.8 (a)
PDE8B 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde8b 35
  • 90.21 (n)
  • 97.38 (a)
Pde8b 16
Pde8b 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDE8B 35
  • 99.18 (n)
  • 99.36 (a)
PDE8B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde8b 35
  • 90.45 (n)
  • 97.63 (a)
oppossum
(Monodelphis domestica)
Mammalia PDE8B 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE8B 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE8B 35
  • 79.68 (n)
  • 85.08 (a)
PDE8B 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE8B 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde8b 35
  • 76.91 (n)
  • 84.4 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.11295 35
pde8b 35
  • 71.88 (n)
  • 79.27 (a)
pde8b 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5411 37
  • 49 (a)
Pde8 35
  • 50.54 (n)
  • 43.6 (a)
Pde8 36
  • 36 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007163 35
  • 51.85 (n)
  • 44.19 (a)
worm
(Caenorhabditis elegans)
Secernentea Y95B8A.10 37
  • 39 (a)
pde-6 36
  • 30 (a)
OneToMany
Species with no ortholog for PDE8B:
  • 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

ENSEMBL:
Gene Tree for PDE8B (if available)
TreeFam:
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.org 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
VAR_066503 Primary pigmented nodular adrenocortical disease 3 (PPNAD3)
rs723374 -- 77,410,836(-) AAATT(A/T)AAAAA intron-variant
rs1580 -- 77,428,144(-) ATCAC(A/T)TTTAC utr-variant-3-prime
rs14368 -- 77,291,673(+) CTTTG(G/T)AGGAG intron-variant
rs832785 -- 77,254,504(+) ACCAA(A/G)CTCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv469515 CNV Loss 16826518
esv29763 CNV Loss 19812545
nsv507265 CNV Insertion 20534489
esv2640816 CNV Deletion 19546169
esv25490 CNV Loss 19812545
esv5973 CNV Gain 19470904
nsv4889 CNV Insertion 18451855
esv2619324 CNV Insertion 19546169
esv1478247 CNV Insertion 17803354
esv271727 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
PDE8B
Human Gene Mutation Database (HGMD)
PDE8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE8B Gene

Disorders for PDE8B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pigmented nodular adrenocortical disease, primary, 3
  • ppnad3
striatal degeneration, autosomal dominant
  • adsd
autosomal dominant striatal neurodegeneration
  • striatal degeneration, autosomal dominant
primary pigmented nodular adrenocortical disease
  • pigmented nodular adrenocortical disease, primary, 2
spasmodic dystonia
  • laryngeal dystonia
- elite association - COSMIC cancer census association via MalaCards
Search PDE8B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDE8B_HUMAN
  • 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 (ADSD) [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)
PDE8B
Human Genome Epidemiology (HuGE) Navigator
PDE8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDE8B
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 23 67
  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 23
  3. Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels. (PMID: 20373981) Horvath A. … Stratakis C.A. (Thyroid 2010) 3 23
  4. 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 23
  5. Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. (PMID: 19820008) Shields B.M. … Vaidya B. (J. Clin. Endocrinol. Metab. 2009) 3 23

Products for PDE8B Gene

Sources for PDE8B Gene

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