PDE6B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PDE6B |
| Official Name | phosphodiesterase 6B [Source:HGNC Symbol;Acc:HGNC:8786] |
| Ensembl ID | ENSG00000133256 |
| Bio databases IDs | |
| Aliases | phosphodiesterase 6B, congenital stationary night blindness 3, autosomal dominant, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta |
| Synonyms | beta-subunit of rod cGMP-PDE, beta-subunit of rod cGMP-phosphodiesterase, cGMP Phosphodiesterase Beta Subunit, cGMP Phosphodiesterase β Subunit, CSNB3, CSNBAD2, cyclic guanosine monophosphate-phosphodiesterase beta-subunit, cyclic guanosine monophosphate-phosphodiesterase β-subunit, GMP-PDEbeta, PDEB, phosphodiesterase 6B, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide, phosphodiesterase 6B, cGMP, rod receptor, β polypeptide, rd, rd-1, rd10, rod cGMP-phosphodiesterase beta-subunit, rod cGMP-phosphodiesterase β-subunit, RP40, β-PDE, β-subunit of rod cGMP-PDE, β-subunit of rod cGMP-phosphodiesterase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDE6B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Metal dependent phosphohydrolases with conserved 'HD' motif
- 3'5'-cyclic nucleotide phosphodiesterase
- catalytic domain
- GAF domain
- enzyme
- HDc
- 3',5'-cyclic-nucleotide phosphodiesterase
- Domain present in phytochromes and cGMP-specific phosphodiesterases
Pathways
Biological processes and signaling networks where the PDE6B gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- retinal degeneration
- retinitis pigmentosa
- retinitis pigmentosa type 40
- autosomal recessive retinitis pigmentosa
- autosomal dominant congenital stationary night blindness type 2
- rodless retina disease
- spinocerebellar ataxia type 7
- Huntington disease
- tyrosinase-positive oculocutaneous albinism
role in cell
- quantity
- apoptosis
- survival
- cell death
- activation
- function
- loss
- degeneration
- morphology
- preservation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- photoreceptor outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDE6B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phototransduction, visible light
- retina development in camera-type eye
- entrainment of circadian clock by photoperiod
- visual perception
- cAMP-mediated signaling
Cellular Component
Where in the cell the gene product is active
- plasma membrane
- photoreceptor outer segment membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- 3',5'-cyclic-GMP phosphodiesterase activity
- 3',5'-cyclic-AMP phosphodiesterase activity