Homo sapiens Gene: PDE6B
Summary
InnateDB Gene IDBG-5946.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDE6B
Gene Name phosphodiesterase 6B, cGMP-specific, rod, beta
Synonyms CSNB3; CSNBAD2; PDEB; rd1; RP40
Species Homo sapiens
Ensembl Gene ENSG00000133256
Encoded Proteins
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
phosphodiesterase 6B, cGMP-specific, rod, beta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:625584-670782
Strand Forward strand
Band p16.3
Transcripts
ENST00000255622 ENSP00000255622
ENST00000429163 ENSP00000406334
ENST00000496514 ENSP00000420295
ENST00000465426 ENSP00000418454
ENST00000474251
ENST00000487902 ENSP00000418256
ENST00000476034
ENST00000488061 ENSP00000420228
ENST00000467152
ENST00000460119
ENST00000471824 ENSP00000417852
ENST00000461490 ENSP00000417178
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005515 protein binding
GO:0046872 metal ion binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
Biological Process
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0008152 metabolic process
GO:0009583 detection of light stimulus
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0046037 GMP metabolic process
GO:0051480 cytosolic calcium ion homeostasis
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0005886 plasma membrane
GO:0097381 photoreceptor disc membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Ca2+ pathway pathway
Activation of the phototransduction cascade pathway
beta-catenin independent WNT signaling pathway
Signaling by Wnt pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
Purine metabolism pathway
Phototransduction pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID NCI
Visual signal transduction: Rods
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654544
RefSeq NM_000283 NM_001145291 NM_001145292
HUGO
OMIM
CCDS CCDS33932 CCDS46993 CCDS54703
HPRD 01571
IMGT
EMBL
GenPept
RNA Seq Atlas