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 |
|---|---|---|---|---|---|
OMIM IDMIM:180072 Ensembl IDEnsembl:ENSG00000133256 HGNC IDHGNC:HGNC:8786 PHARMGKB IDPA33134 Map Location4p16.3 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PDE6B
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.