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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 3.1.4.53 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 1 and Pigmented Nodular Adrenocortical Disease, Primary, 3. Among its related pathways are Pyrimidine metabolism (KEGG) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and 3,5-cyclic-AMP phosphodiesterase activity. An important paralog of this gene is ENSG00000284762.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PDE8B Gene

Promoters and enhancers for PDE8B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J077210 Promoter 1.4 EPDnew Ensembl 650.3 +30.3 30339 0.8 ZNF174 ZBTB8A ZIC2 ZNF335 ZFHX2 ZNF692 PATZ1 ZBTB26 ZBTB17 ZBTB20 PDE8B GC05M077218 ENSG00000284762
GH05J077211 Promoter 0.9 EPDnew 650.3 +30.9 30924 0.1 ZBTB10 ZNF174 ZNF777 ZNF398 ZEB2 ZIC2 ZNF335 GLIS2 GLIS1 PATZ1 PDE8B GC05M077218 ENSG00000284762
GH05J077139 Promoter 0.8 EPDnew 660.3 -41.0 -41002 0.1 GLIS1 HMBOX1 HNF4A ZIC2 SP7 ZBTB20 ZNF558 PDE8B HMGB1P35 ZBED3-AS1 ZBED3 ENSG00000284762 ENSG00000285000
GH05J077180 Promoter 0.8 EPDnew 650.7 +0.0 23 0.1 E2F1 SMARCC1 POLR2A SUZ12 MAX ZNF143 EZH2 PDE8B ZBED3-AS1 GC05M077218 ENSG00000284762
GH05J077418 Promoter 0.8 EPDnew 650.1 +238.1 238144 0.1 CREB1 NFE2 SMAD4 BCL6 ZBTB26 PDE8B ZBED3-AS1 GC05M077427 GC05M077395 ENSG00000284762
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE8B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDE8B gene promoter:
  • C/EBPbeta
  • Evi-1
  • FOXF2

Genomic Locations for PDE8B Gene

Genomic Locations for PDE8B Gene
chr5:77,180,262-77,429,807
(GRCh38/hg38)
Size:
249,546 bases
Orientation:
Plus strand
chr5:76,506,274-76,725,632
(GRCh37/hg19)
Size:
219,359 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

Post-translational modifications for PDE8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDE8B Gene

Domains & Families for PDE8B Gene

Gene Families for PDE8B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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.
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 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.
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.

Enzyme Numbers (IUBMB) for PDE8B Gene

Phenotypes From GWAS Catalog 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

miRNA for PDE8B Gene

miRTarBase miRNAs that target PDE8B

Clone Products

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

Localization for PDE8B Gene

Subcellular locations from

COMPARTMENTS
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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

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:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0009187 cyclic nucleotide metabolic process NAS 9784418
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dipyridamole Approved Pharma Inhibition, Inhibitor, inhibitor Adenosine transport inhibitor 84
Trapidil Approved Pharma Target, inhibitor 1
Caffeine Approved Nutra Antagonist, Activator, Target, inhibitor 434
Cafcit Injection Approved September 1999 Pharma 0
Ketotifen Approved Pharma 22

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Eggmanone
505068-32-6
Etazolate hydrochloride
35838-58-5
IBMX
Antagonist 28822-58-4
MY-5445
78351-75-4
Ro 20-1724
29925-17-5

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

Transcripts for PDE8B Gene

Unigene Clusters for PDE8B Gene

Phosphodiesterase 8B:
Representative Sequences:

Clone 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
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 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, MaxQB, and MOPED for PDE8B Gene



Protein tissue co-expression partners for PDE8B Gene

NURSA nuclear receptor signaling pathways regulating expression of PDE8B Gene:

PDE8B

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.

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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • pelvis
  • uterus
Limb:
  • 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
General:
  • 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

Orthologs for PDE8B Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDE8B 34 33
  • 99.18 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDE8B 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE8B 34 33
  • 92.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde8b 33
  • 90.45 (n)
mouse
(Mus musculus)
Mammalia Pde8b 16 34 33
  • 90.21 (n)
cow
(Bos Taurus)
Mammalia PDE8B 34 33
  • 87.84 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE8B 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE8B 34 33
  • 79.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE8B 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde8b 33
  • 76.91 (n)
zebrafish
(Danio rerio)
Actinopterygii pde8b 34 33
  • 71.88 (n)
OneToOne
Dr.11295 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007163 33
  • 51.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pde8 34 33
  • 50.54 (n)
OneToMany
CG5411 35
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea Y95B8A.10 35
  • 39 (a)
pde-6 34
  • 30 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PDE8B (if available)
TreeFam:
Gene Tree for PDE8B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDE8B: view image

Paralogs for PDE8B Gene

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

  • PDE8B_HUMAN
  • D6R9W0_HUMAN
  • D6RH10_HUMAN
  • D6RJD7_HUMAN
  • Q3ZCR2_HUMAN
  • Q3ZCW6_HUMAN

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 Variation AA Info Type
rs1011255806 uncertain-significance, Striatal Degeneration 77,211,081(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant
rs10536220 benign, uncertain-significance, Striatal Degeneration 77,427,402(+) AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA 3_prime_UTR_variant
rs112049153 likely-benign, Striatal Degeneration 77,419,782(+) G/A coding_sequence_variant, synonymous_variant
rs114017128 likely-benign, Striatal Degeneration 77,353,391(+) T/C coding_sequence_variant, intron_variant, synonymous_variant
rs115599001 likely-benign, Striatal Degeneration 77,312,016(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant

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)

Additional Variant Information for PDE8B Gene

Human Gene Mutation Database (HGMD)
PDE8B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE8B

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
striatal degeneration, autosomal dominant 1
  • adsd1
pigmented nodular adrenocortical disease, primary, 3
  • ppnad3
primary pigmented nodular adrenocortical disease
  • pigmented nodular adrenocortical disease, primary, 2
spasmodic dystonia
  • laryngeal dystonia
focal hand dystonia
  • dystonia, focal, task-specific
- 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
  • 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.
  • 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.

Additional Disease Information for PDE8B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 (Biochemical and biophysical research communications 1998) 2 3 4 22 58
  2. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. (PMID: 20085714) Appenzeller S … Kuhlenbäumer G (American journal of human genetics 2010) 3 4 22 58
  3. Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. (PMID: 19820008) Shields BM … Vaidya B (The Journal of clinical endocrinology and metabolism 2009) 3 22 44 58
  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 EI … Stratakis CA (European journal of endocrinology 2009) 3 22 44 58
  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 CA (European journal of human genetics : EJHG 2008) 3 4 22 58

Products for PDE8B Gene

Sources for PDE8B Gene

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