• Gene id: 8622

Gene Summary

• Gene Symbol: PDE8B   Gene   UCSC   Ensembl
• Aliases: ADSD, PPNAD3
• Gene name: phosphodiesterase 8B
• Alternate names: high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B, 3',5' cyclic nucleotide phosphodiesterase 8B, cell proliferation-inducing gene 22 protein,
• Gene location: 5q13.3 (77180303: 77428255)     Exons: 25     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 603399

Protein Summary

• Protein general information: O95263  
  • 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)
  • Length: 885  
  • Mass: 98979
  • 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:

  MGCAPSIHVSQSGVIYCRDSDESSSPRQTTSVSQGPAAPLPGLFVQTDAADAIPPSRASGPPSVARVRRARTELG
  SGSSAGSAAPAATTSRGRRRHCCSSAEAETQTCYTSVKQVSSAEVRIGPMRLTQDPIQVLLIFAKEDSQSDGFWW
  ACDRAGYRCNIARTPESALECFLDKHHEIIVIDHRQTQNFDAEAVCRSIRATNPSEHTVILAVVSRVSDDHEEAS
  VLPLLHAGFNRRFMENSSIIACYNELIQIEHGEVRSQFKLRACNSVFTALDHCHEAIEITSDDHVIQYVNPAFER
  MMGYHKGELLGKELADLPKSDKNRADLLDTINTCIKKGKEWQGVYYARRKSGDSIQQHVKITPVIGQGGKIRHFV
  SLKKLCCTTDNNKQIHKIHRDSGDNSQTEPHSFRYKNRRKESIDVKSISSRGSDAPSLQNRRYPSMARIHSMTIE
  APITKVINIINAAQENSPVTVAEALDRVLEILRTTELYSPQLGTKDEDPHTSDLVGGLMTDGLRRLSGNEYVFTK
  NVHQSHSHLAMPITINDVPPCISQLLDNEESWDFNIFELEAITHKRPLVYLGLKVFSRFGVCEFLNCSETTLRAW
  FQVIEANYHSSNAYHNSTHAADVLHATAFFLGKERVKGSLDQLDEVAALIAATVHDVDHPGRTNSFLCNAGSELA
  VLYNDTAVLESHHTALAFQLTVKDTKCNIFKNIDRNHYRTLRQAIIDMVLATEMTKHFEHVNKFVNSINKPMAAE
  IEGSDCECNPAGKNFPENQILIKRMMIKCADVANPCRPLDLCIEWAGRISEEYFAQTDEEKRQGLPVVMPVFDRN
  TCSIPKSQISFIDYFITDMFDAWDAFAHLPALMQHLADNYKHWKTLDDLKCKSLRLPSDS

• Structural information:
  • Protein Domains: (267..33-)
    (/note="PAS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (539..87-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003607  IPR000014  IPR035965  IPR023088  IPR002073   IPR036971  IPR023174  IPR013938  
  • Prosite: PS50112 PS00126 PS51845
  • CDD: cd00077 cd00130
  • STRING: ENSP00000264917
• Other Databases: GeneCards:  PDE8B  Malacards:  PDE8B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0006198	cAMP catabolic process	IEA	biological process
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	IMP	molecular function
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04934	Cushing syndrome
hsa05032	Morphine addiction
hsa04927	Cortisol synthesis and secretion

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Pigmented micronodular adrenocortical disease	KEGG:H00260
Autosomal dominant striatal degeneration	KEGG:H01570
Cushing syndrome	KEGG:H01431
Pigmented micronodular adrenocortical disease	KEGG:H00260
Autosomal dominant striatal degeneration	KEGG:H01570
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray