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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8622
Gene name	Phosphodiesterase 8B
Gene symbol	PDE8B
Synonyms (NCBI Gene)	ADSDPPNAD3
Chromosome	5
Chromosome location	5q13.3
Summary	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

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

139

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant striatal neurodegeneration type 1	Pathogenic; Likely pathogenic	rs2149371451, rs878853157, rs878853158, rs1793090227	RCV000006763 RCV000224988 RCV000224977 RCV003234861
PDE8B-Related Disorders	Pathogenic	rs1389677367	RCV004579632
Pigmented nodular adrenocortical disease, primary, 3	Pathogenic	rs121918360	RCV000006762

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs116781254	RCV005899004
Melanoma	Uncertain significance	rs370775538	RCV005925544
Nonpapillary renal cell carcinoma	Benign	rs116781254	RCV005899005
PDE8B-related disorder	Likely benign; Benign; Uncertain significance	rs202138455, rs573997104, rs140381860, rs558853134, rs61999348, rs79008179, rs186052720, rs2532437006, rs761553287, rs374248560, rs148282450	RCV003978454 RCV003936322 RCV003932457 RCV003950255 RCV004757218 RCV003972486 RCV003957825 RCV003901404 RCV003937311 RCV003953333 RCV003955788
Striatal Degeneration	Uncertain significance; Benign	rs886060765, rs40594, rs878934235, rs201820094, rs10536220, rs753944988, rs62362531, rs886060763, rs72114997, rs768495981, rs538393856	RCV000360655 RCV000267169 RCV000349252 RCV000309457 RCV000262351 RCV000294913 RCV000272908 RCV000337742 RCV000319775 RCV000372963 RCV000359271 RCV000385607

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)