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FLASH GENE
Symbol PDE8B contributors: mct - updated : 21-11-2018
HGNC name phosphodiesterase 8B
HGNC id 8794
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