Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8622
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphodiesterase 8B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PDE8B
Synonyms (NCBI Gene) Gene synonyms aliases	ADSD, PPNAD3
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene ar

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918360	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs878853157	C>-	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs878853158	G>T	Pathogenic	Intron variant, genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant

Show/Hide all(34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018136	hsa-miR-335-5p	Microarray	18185580
MIRT1221068	hsa-miR-135a	CLIP-seq
MIRT1221069	hsa-miR-135b	CLIP-seq
MIRT1221070	hsa-miR-203	CLIP-seq
MIRT1221071	hsa-miR-3646	CLIP-seq
MIRT1221072	hsa-miR-3662	CLIP-seq
MIRT1221073	hsa-miR-3671	CLIP-seq
MIRT1221074	hsa-miR-4252	CLIP-seq
MIRT1221075	hsa-miR-4761-3p	CLIP-seq
MIRT1221076	hsa-miR-548b-3p	CLIP-seq
MIRT1221077	hsa-miR-607	CLIP-seq
MIRT2063792	hsa-miR-128	CLIP-seq
MIRT2063793	hsa-miR-27a	CLIP-seq
MIRT2063794	hsa-miR-27b	CLIP-seq
MIRT2063795	hsa-miR-4679	CLIP-seq
MIRT2063796	hsa-miR-513a-5p	CLIP-seq
MIRT2292248	hsa-miR-1224-5p	CLIP-seq
MIRT2292249	hsa-miR-132	CLIP-seq
MIRT2292250	hsa-miR-212	CLIP-seq
MIRT2292251	hsa-miR-3915	CLIP-seq
MIRT2292252	hsa-miR-3928	CLIP-seq
MIRT2292253	hsa-miR-4659a-3p	CLIP-seq
MIRT2292254	hsa-miR-4659b-3p	CLIP-seq
MIRT2292255	hsa-miR-4689	CLIP-seq
MIRT2292256	hsa-miR-4803	CLIP-seq
MIRT2292257	hsa-miR-490-5p	CLIP-seq
MIRT2292258	hsa-miR-570	CLIP-seq
MIRT2465819	hsa-miR-1226	CLIP-seq
MIRT2465820	hsa-miR-3616-3p	CLIP-seq
MIRT2465821	hsa-miR-518d-5p	CLIP-seq
MIRT2465822	hsa-miR-519b-5p	CLIP-seq
MIRT2465823	hsa-miR-519c-5p	CLIP-seq
MIRT2465824	hsa-miR-520c-5p	CLIP-seq
MIRT2465825	hsa-miR-526a	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IMP	9784418
GO:0005829	Component	Cytosol	TAS
GO:0006198	Process	CAMP catabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035106	Process	Operant conditioning	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0061179	Process	Negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA
GO:0090032	Process	Negative regulation of steroid hormone biosynthetic process	IEA
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA

MIM	HGNC	e!Ensembl
603390	8794	ENSG00000113231

Protein

UniProt ID

O95263

Protein name

High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B (HsPDE8B) (EC 3.1.4.53) (Cell proliferation-inducing gene 22 protein)

Protein function

Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08629	PDE8	1 → 47	PDE8 phosphodiesterase	Family
PF13426	PAS_9	279 → 385	PAS domain	Domain
PF00233	PDEase_I	614 → 862		Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and placenta. In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta isoforms 1 and 2 are expressed e

Sequence

MGCAPSIHVSQSGVIYCRDSDESSSPRQTTSVSQGPAAPLPGLFVQTDAADAIPPSRASG
PPSVARVRRARTELGSGSSAGSAAPAATTSRGRRRHCCSSAEAETQTCYTSVKQVSSAEV
RIGPMRLTQDPIQVLLIFAKEDSQSDGFWWACDRAGYRCNIARTPESALECFLDKHHEII
VIDHRQTQNFDAEAVCRSIRATNPSEHTVILAVVSRVSDDHEEASVLPLLHAGFNRRFME
NSSIIACYNELIQIEHGEVRSQFKLRACNSVFTALDHCHEAIEITSDDHVIQYVNPAFER
MMGYHKGELLGKELADLPKSDKNRADLLDTINTCIKKGKEWQGVYYARRKSGDSIQQHVK
ITPVIGQGGKIRHFVSLKKLCCTTDNNKQIHKIHRDSGDNSQTEPHSFRYKNRRKESIDV
KSISSRGSDAPSLQNRRYPSMARIHSMTIEAPITKVINIINAAQENSPVTVAEALDRVLE
ILRTTELYSPQLGTKDEDPHTSDLVGGLMTDGLRRLSGNEYVFTKNVHQSHSHLAMPITI
NDVPPCISQLLDNEESWDFNIFELEAITHKRPLVYLGLKVFSRFGVCEFLNCSETTLRAW
FQVIEANYHSSNAYHNSTHAADVLHATAFFLGKERVKGSLDQLDEVAALIAATVHDVDHP
GRTNSFLCNAGSELAVLYNDTAVLESHHTALAFQLTVKDTKCNIFKNIDRNHYRTLRQAI
IDMVLATEMTKHFEHVNKFVNSINKPMAAEIEGSDCECNPAGKNFPENQILIKRMMIKCA
DVANPCRPLDLCIEWAGRISEEYFAQTDEEKRQGLPVVMPVFDRNTCSIPKSQISFIDYF
ITDMFDAWDAFAHLPALMQHLADNYKHWKTLDDLKCKSLRLPSDS

Sequence length

885

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Cortisol synthesis and secretion Cushing syndrome Morphine addiction		G alpha (s) signalling events

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Pigmented Nodular Adrenocortical Disease	pigmented nodular adrenocortical disease, primary, 3	rs121918360	N/A
Striatal Neurodegeneration	Autosomal dominant striatal neurodegeneration type 1	rs878853157, rs878853158, rs2147483647	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes (PheCode 250.2), Type 2 diabetes	N/A	N/A	GWAS
Hyperthyroidism	Hyperthyroidism	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	N/A	N/A	GWAS
striatal degeneration	Striatal Degeneration	N/A	N/A	ClinVar
Striatal Degeneration	striatal degeneration, autosomal dominant	N/A	N/A	GenCC

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Habitual	Associate	23237535
Adrenal Gland Neoplasms	Associate	19429701, 19522821, 22335482
Atrial Fibrillation	Associate	36810794
Autoimmune Diseases	Associate	22493691
Carney Complex	Associate	19522821
COVID 19	Associate	34775353
Disease	Associate	37337823
Hypothyroidism	Associate	22493691, 23237535
Leydig Cell Tumor	Stimulate	36277728
Neoplasm Metastasis	Associate	34966441
Neoplasms	Associate	22335482, 22815913
Pigmented Nodular Adrenocortical Disease Primary 2	Associate	20373981
Retinoblastoma	Associate	37179305
Striatal Degeneration Autosomal Dominant	Associate	20085714
Striatonigral degeneration infantile	Associate	21502949
Thyroid Carcinoma Anaplastic	Associate	27796151
Thyroid Diseases	Associate	23344678
Thyroid Neoplasms	Associate	34966441
Thyroiditis Autoimmune	Associate	37197658

PDE8B (phosphodiesterase 8B)