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FLASH GENE
Symbol PDE8B contributors: mct - updated : 21-11-2018
HGNC name phosphodiesterase 8B
HGNC id 8794
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal regulatory domain
  • a conserved C-terminal catalytic region
  • one PAS (per-arnt-sim) dimerization domain
    • HOMOLOGY
    Homologene
    FAMILY
  • PDE8 family
  • cyclic nucleotide phosphodiesterase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text PDE8B is broadly distributed in the cytosol
    basic FUNCTION
  • c-AMP phosphodiesterase, playing a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides
  • degrades cyclic AMP, a second messenger implied in dopamine signaling
  • could play an important role in the regulation of neuronal function, especially in the striatum
  • is a major regulator of one or more pools of cAMP that promote steroidogenesis via both short- and long-term mechanisms
  • CAPZB and PDE8B have been linked to TSH levels
  • is a regulator of cyclic adenosine monophosphate (cAMP) with important influence on human thyroid metabolism
  • cyclic nucleotide PDEs play important role in the achievement of meiotic competency by reducing intraoocyte cyclic nucleotides level in mammalian oocytes
  • modulate likely thyroid physiology that may influence the manifestation of thyroid disease
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • ions Mg2+
    • protein
  • both PDE8A and PDE8B play essential roles to maintain low cAMP levels, thereby suppressing resting steroidogenesis by keeping cholesterol-ester hydrolase (CEH)/hormone-sensitive lipase (HSL) inactive and STAR protein expression low
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SNID2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in bilateral adrenocortical hyperplasia (BAH)
    Susceptibility
  • to variation of thyroid function and TSH levels
  • to subclinical hypothyroidism (SCH) in pregnant women
  • to recurrent miscarriage
    • Variant & Polymorphism SNP , other
  • associated with serum TSH levels and thyroid function
  • genetic variation of the PDE8B gene may be involved in the etiology of SCH in pregnant women
  • rs4704397 in the PDE8B gene has been shown to be associated with variations in serum Thyroid Stimulating Hormone (TSH) and thyroxine (T4) levels
  • association between homozygous A/A as well as homozygous G/G carriers of SNP rs 4704397 in PDE8B and recurrent miscarriage
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    mental retardation  
    selective antagonism of PDE8B may be an attractive target for enhancement of cognitive and motor functions
    allergy  
    ANIMAL & CELL MODELS
  • Pde8b knockout mice have elevated urinary corticosterone as a result of adrenal hypersensitivity toward adrenocorticotropin