Property Summary

NCBI Gene PubMed Count 32
PubMed Score 118.81
PubTator Score 46.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Hypothyroidism 89 0.0 1.0
Disease Target Count Z-score Confidence
Cushing's syndrome 47 3.672 1.8
Disease Target Count Z-score Confidence
Dystonia 77 4.109 2.1
Carney complex 23 4.019 2.0

Expression

  Differential Expression (22)

Disease log2 FC p
astrocytic glioma 1.700 2.2e-02
ependymoma -1.700 2.2e-02
oligodendroglioma 1.300 1.6e-02
osteosarcoma -1.400 9.0e-03
glioblastoma -1.600 4.4e-03
sonic hedgehog group medulloblastoma -2.600 3.9e-06
atypical teratoid / rhabdoid tumor -2.000 2.5e-08
medulloblastoma, large-cell -2.700 1.1e-04
primitive neuroectodermal tumor -1.600 2.0e-03
adrenocortical carcinoma 2.313 1.7e-03
non-small cell lung cancer -1.375 2.3e-17
intraductal papillary-mucinous carcinoma... -1.200 1.2e-02
breast carcinoma -1.600 3.7e-03
lung adenocarcinoma -2.600 1.0e-12
pilocytic astrocytoma 1.100 1.5e-02
lung carcinoma 2.100 1.3e-16
Breast cancer -1.500 2.3e-05
ductal carcinoma in situ -2.000 1.5e-03
ovarian cancer -4.600 1.7e-21
pituitary cancer 1.300 8.8e-03
chronic rhinosinusitis -2.001 6.9e-03
cystic fibrosis and chronic rhinosinusit... -1.738 3.0e-02

Protein-protein Interaction (9)

Gene RIF (21)

PMID Text
25822812 Genetic variation of the PDE8B gene may be involved in the etiology of subclinical hypothyroidism in pregnant women.
24497218 A prevalence of the minor allele of PDE8B gene polymorphism associated with elevated serum levels of TSH was demonstrated in patients affected by sporadic nonautoimmune subclinical hypothyroidism.
23941514 rs4704397 is associated with thyroid function, risk of MI, and body height.
23272636 rs4704397 in phosphodiesterase 8B is associated with thyrotropin and thyroid hormone concentrations
23237535 There is an association between homozygous A/A as well as homozygous G/G carriers of SNP rs 4704397 in PDE8B and recurrent miscarriage.
22781450 PDE8B gene polymorphisms may be correlated with hyperthyroxinemia in the Chinese Han population.
22335482 PDE8B is another PDE gene in which variations may contribute to predisposition of adrenocortical tumours.
22084153 In obese children, PDE8B is associated with TSH; the interaction between adiposity and PDE8B on TSH is not synergistic, but follows an additive model.
21317282 Common genetic variation in PDE8B is associated with reciprocal changes in thyroid hormone levels.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20373981 Our analysis revealed separate segregation of an inactivating PDE8B allele from the high-TSH-allele and showed low TSH levels in persons who carry an inactivating PDE8B allele. These data suggest that PDE8B may be involved in regulation of TSH levels.
20085714 phosphodiesterase 8B has a role in autosomal-dominant striatal degeneration
19820008 Genetic variation in thyroid stimulating hormone levels in pregnancy associated with the PDE8B rs4704397 genotype has implications for the number of women treated for subclinical hypothyroidism under current guidelines
19820008 Observational study of gene-disease association. (HuGE Navigator)
19429701 Observational study of gene-disease association. (HuGE Navigator)
18514160 results suggest a primary effect of PDE8B variants on cAMP levels in the thyroid. This would affect production of T4 and T3 and feedback to alter TSH release by the pituitary.
18514160 Observational study of gene-disease association. (HuGE Navigator)
18431404 PDE8B is another PDE gene linked to isolated micronodular adrenocortical disease; it is a candidate causative gene for other adrenocortical lesions linked to the cAMP signaling pathway and possibly for tumors in other tissues.
12895443 In Alzheimer's disease brains we found that PDE8B was the only PDE isozyme showing a significant increase, in cortical areas and parts of the hippocampal formation, at Braak stages III-VI
12681444 Comparison of enzymatic characterization and gene organization of PDE8B and PDE8A.
12372422 selective usage of exons produces three different PDE8B variants that exhibit a tissue-specific expression pattern

AA Sequence

MGCAPSIHVSQSGVIYCRDSDESSSPRQTTSVSQGPAAPLPGLFVQTDAADAIPPSRASGPPSVARVRRA      1 - 70
RTELGSGSSAGSAAPAATTSRGRRRHCCSSAEAETQTCYTSVKQVSSAEVRIGPMRLTQDPIQVLLIFAK     71 - 140
EDSQSDGFWWACDRAGYRCNIARTPESALECFLDKHHEIIVIDHRQTQNFDAEAVCRSIRATNPSEHTVI    141 - 210
LAVVSRVSDDHEEASVLPLLHAGFNRRFMENSSIIACYNELIQIEHGEVRSQFKLRACNSVFTALDHCHE    211 - 280
AIEITSDDHVIQYVNPAFERMMGYHKGELLGKELADLPKSDKNRADLLDTINTCIKKGKEWQGVYYARRK    281 - 350
SGDSIQQHVKITPVIGQGGKIRHFVSLKKLCCTTDNNKQIHKIHRDSGDNSQTEPHSFRYKNRRKESIDV    351 - 420
KSISSRGSDAPSLQNRRYPSMARIHSMTIEAPITKVINIINAAQENSPVTVAEALDRVLEILRTTELYSP    421 - 490
QLGTKDEDPHTSDLVGGLMTDGLRRLSGNEYVFTKNVHQSHSHLAMPITINDVPPCISQLLDNEESWDFN    491 - 560
IFELEAITHKRPLVYLGLKVFSRFGVCEFLNCSETTLRAWFQVIEANYHSSNAYHNSTHAADVLHATAFF    561 - 630
LGKERVKGSLDQLDEVAALIAATVHDVDHPGRTNSFLCNAGSELAVLYNDTAVLESHHTALAFQLTVKDT    631 - 700
KCNIFKNIDRNHYRTLRQAIIDMVLATEMTKHFEHVNKFVNSINKPMAAEIEGSDCECNPAGKNFPENQI    701 - 770
LIKRMMIKCADVANPCRPLDLCIEWAGRISEEYFAQTDEEKRQGLPVVMPVFDRNTCSIPKSQISFIDYF    771 - 840
ITDMFDAWDAFAHLPALMQHLADNYKHWKTLDDLKCKSLRLPSDS                             841 - 885
//

Text Mined References (36)

PMID Year Title
25822812 2015 Genetic association study of phosphodiesterase 8B gene with subclinical hypothyroidism in pregnant women.
25436638 2014 Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.
24497218 2014 Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism.
23941514 2014 The phosphodiesterase 8B gene rs4704397 is associated with thyroid function, risk of myocardial infarction, and body height: the Tromsø study.
23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
23272636 2013 Associations of rs4704397 in phosphodiesterase 8B with thyrotropin and thyroid hormone concentrations.
23237535 2012 Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: a retrospective case control study.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22781450 2012 [Association analysis of PDE8B gene polymorphisms with the susceptibility to Hyperthyroxinemia in Chinese Han population].
22494929 2012 Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.
22335482 2012 Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
22084153 2012 Impact of phosphodiesterase 8B gene rs4704397 variation on thyroid homeostasis in childhood obesity.
21502949 2011 Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search.
21317282 2011 A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20373981 2010 Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.
20085714 2010 Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19820008 2009 Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.
19429701 2009 Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18514160 2008 Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
18431404 2008 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.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15210883 2004 Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
15144186 2004 Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12895443 2003 Alterations on phosphodiesterase type 7 and 8 isozyme mRNA expression in Alzheimer's disease brains examined by in situ hybridization.
12681444 2003 Comparison of enzymatic characterization and gene organization of cyclic nucleotide phosphodiesterase 8 family in humans.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12372422 2002 Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene.
11502813 2001 Relevant cAMP-specific phosphodiesterase isoforms in human pituitary: effect of Gs(alpha) mutations.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
9784418 1998 Molecular cloning and characterization of human PDE8B, a novel thyroid-specific isozyme of 3',5'-cyclic nucleotide phosphodiesterase.