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FLASH GENE

Symbol

PDE8B

contributors: mct - updated : 21-11-2018

HGNC name	phosphodiesterase 8B
HGNC id	8794

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003719 22 splicing 4405 NP_003710 98.9 885 abundant in thyroid gland 2008 18514160 an N-terminal REC domain, a PAS domain, and a C-terminal catalytic domain NM_001029854 21 splicing 4264 NP_001025025 - 838 - 2008 18514160 have deletion in the PAS domain NM_001029851 19 splicing 4114 NP_001025022 - 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 NM_001029853 21 splicing 4345 NP_001025024 - 865 - 2008 18514160 NM_001029852 21 - 4240 NP_001025023 - 830 abundant in thyroid gland 2008 18514160 NM_001349748 22 - 4414 NP_001336677 - 884 - 2008 18514160 NM_001349749 23 - 4480 NP_001336678 - 906 - 2008 18514160 NM_001349750 23 - 4326 NP_001336679 - 805 - 2008 18514160 NM_001349751 21 - 4284 NP_001336680 - 812 - 2008 18514160 NM_001349752 22 - 4260 NP_001336681 - 783 - 2008 18514160 NM_001349753 22 - 4490 NP_001336682 - 761 - 2008 18514160

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       lowly Homo sapiens Endocrine adrenal gland cortex     highly Homo sapiens Nervous brain basal nuclei putamen   highly Homo sapiens   brain limbic system hippocampus     Mus musculus   brain basal nuclei striatum     Mus musculus   brain hindbrain cerebellum     Mus musculus   spinal cord       lowly Homo sapiens Reproductive female system ovary     specific Homo sapiens   male system testis     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive granulosa cell Homo sapiens Reproductive Leydig 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed 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