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FLASH GENE
Symbol PDE8B contributors: mct - updated : 21-11-2018
HGNC name phosphodiesterase 8B
HGNC id 8794
Corresponding disease
SNID2 striatonigral degeneration, 2
Location 5q13.3      Physical location : 76.506.705 - 76.724.078
Synonym name
  • 3',5' cyclic nucleotide phosphodiesterase 8B
  • high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B
  • cell proliferation-inducing gene 22 protein
    • Synonym symbol(s) FLJ11212, PPNAD3, ADSD
    EC.number 3.1.4.17/3.1.4.53
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, head to head
    STRUCTURE 217.38 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 splicing 4405 98.9 885 abundant in thyroid gland 2008 18514160
    an N-terminal REC domain, a PAS domain, and a C-terminal catalytic domain
    21 splicing 4264 - 838 - 2008 18514160
    have deletion in the PAS domain
    19 splicing 4114 - 788 highest expression of the novel isoform in the pancreas, followed by prostate, testis, heart, kidney, ovary and adrenal 2008 18514160
  • deletion in the PAS domain
  • includes one additional 5'-located exon of 53 bp that contains an in-frame initiation codon, accompanied by classical Kozak motif
    • 21 splicing 4345 - 865 - 2008 18514160
    21 - 4240 - 830 abundant in thyroid gland 2008 18514160
    22 - 4414 - 884 - 2008 18514160
    23 - 4480 - 906 - 2008 18514160
    23 - 4326 - 805 - 2008 18514160
    21 - 4284 - 812 - 2008 18514160
    22 - 4260 - 783 - 2008 18514160
    22 - 4490 - 761 - 2008 18514160
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly Homo sapiens
    Endocrineadrenal glandcortex  highly Homo sapiens
    Nervousbrainbasal nucleiputamen highly Homo sapiens
     brainlimbic systemhippocampus   Mus musculus
     brainbasal nucleistriatum   Mus musculus
     brainhindbraincerebellum   Mus musculus
     spinal cord   lowly Homo sapiens
    Reproductivefemale systemovary  specific Homo sapiens
     male systemtestis  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegranulosa cell Homo sapiens
    ReproductiveLeydig cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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