• Gene id: 5158

Gene Summary

• Gene Symbol: PDE6B   Gene   UCSC   Ensembl
• Aliases: CSNB3, CSNBAD2, GMP-PDEbeta, PDEB, RP40, rd1
• Gene name: phosphodiesterase 6B
• Alternate names: rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta, GMP-PDE beta, phosphodiesterase 6B, cGMP-specific, rod, beta, rod cGMP-phosphodiesterase beta-subunit,
• Gene location: 4p16.3 (587324: 670891)     Exons: 28     NC_000004.12
• Gene summary(Entrez): Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral memb
• OMIM: 617987

Protein Summary

• Protein general information: P35913  
  • Name: Rod cGMP specific 3',5' cyclic phosphodiesterase subunit beta (GMP PDE beta) (EC 3.1.4.35)
  • Length: 854  
  • Mass: 98336
• Sequence:

  MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERV
  VFKVLRRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVN
  VEDVAECPHFSSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHL
  SYLHNCETRRGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPY
  SGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDD
  SGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQD
  MVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYY
  ELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDID
  HRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKK
  RAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTV
  LDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKE
  EEERVAAKKVGTEICNGGPAPKSSTCCIL

• Structural information:
  • Protein Domains: (71..22-)
    (/note="GAF-1)
    (252..42-)
    (/note="GAF-2)
    (481..81-)
    (/note="PDEase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01192"-)
  • Interpro: IPR003018  IPR029016  IPR003607  IPR023088  IPR002073   IPR036971  IPR023174  
  • Prosite: PS00126 PS51845
  • CDD: cd00077
  • STRING: ENSP00000420295
• Other Databases: GeneCards:  PDE6B  Malacards:  PDE6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IBA	molecular function
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0060041	retina development in camera-type eye	IBA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
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:0050896	response to stimulus	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0007603	phototransduction, visible light	TAS	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0009583	detection of light stimulus	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043153	entrainment of circadian clock by photoperiod	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04744	Phototransduction

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Congenital stationary night blindness	KEGG:H00787
Retinitis pigmentosa	KEGG:H00527
Congenital stationary night blindness	KEGG:H00787
Cryptorchidism	MIK: 28606200
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray