PDE6B
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| phosphodiesterase 6B | MIM:180072 | Ensembl:ENSG00000133256 | HGNC:HGNC:8786 | PA33134 | 4p16.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in PDE6B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IMP | GO:0047555 | 3',5'-cyclic-GMP phosphodiesterase activity |
| BP | IEA | GO:0007601 | visual perception |
| BP | TAS | GO:0007603 | phototransduction, visible light |
| BP | TAS | GO:0022400 | regulation of rhodopsin mediated signaling pathway |
| BP | IMP | GO:0046037 | GMP metabolic process |
| BP | IMP | GO:0051480 | regulation of cytosolic calcium ion concentration |
| BP | IEA | GO:0060041 | retina development in camera-type eye |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0097381 | photoreceptor disc membrane |
Gene expression in normal tissue: PDE6B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PDE6B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | rhodopsinpathway | visual signal transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-2187338 | Visual phototransduction |
| reactome | R-HSA-2187338 | Visual phototransduction |
| reactome | R-HSA-2485179 | Activation of the phototransduction cascade |
| reactome | R-HSA-2485179 | Activation of the phototransduction cascade |
| reactome | R-HSA-2514856 | The phototransduction cascade |
| reactome | R-HSA-2514856 | The phototransduction cascade |
| reactome | R-HSA-2514859 | Inactivation, recovery and regulation of the phototransduction cascade |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-3858494 | Beta-catenin independent WNT signaling |
| reactome | R-HSA-3858494 | Beta-catenin independent WNT signaling |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-4086398 | Ca2+ pathway |
| reactome | R-HSA-4086398 | Ca2+ pathway |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| wikipathways | WP4222 | Phosphodiesterases in neuronal function |
| pid | rhodopsin_pathway | Visual signal transduction: Rods |
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| kegg | hsa04744 | Phototransduction - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PDE6B
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