PDE6G Gene Summary [Human]
This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
Details
| Type | Protein Coding |
| Official Symbol | PDE6G |
| Official Name | phosphodiesterase 6G [Source:HGNC Symbol;Acc:HGNC:8789] |
| Ensembl ID | ENSG00000185527 |
| Bio databases IDs | |
| Aliases | phosphodiesterase 6G |
| Synonyms | p3AT, PDEG, Pde-γ, phosphodiesterase 6G, phosphodiesterase 6G, cGMP-specific, rod, gamma, phosphodiesterase 6G, cGMP-specific, rod, γ, Rod cgmp phosphodiesterase gamma subunit, Rod cgmp phosphodiesterase γ subunit, Rod pde6, RP57 |
| 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 PDE6G often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme inhibitor activity
- spectrin binding
- Retinal cGMP phosphodiesterase, gamma subunit
- enzyme
- protein binding
- 3',5'-cyclic-nucleotide phosphodiesterase
Pathways
Biological processes and signaling networks where the PDE6G 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
- retinitis pigmentosa type 57
- retinitis pigmentosa
- retinal dystrophy
- myopia
role in cell
- number
- degeneration
- abnormal morphology
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDE6G gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of epidermal growth factor receptor signaling pathway
- positive regulation of MAPK cascade
- visual perception
- positive regulation of G-protein coupled receptor protein signaling pathway
Cellular Component
Where in the cell the gene product is active
- photoreceptor outer segment membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- spectrin binding
- enzyme inhibitor activity
- 3',5'-cyclic-GMP phosphodiesterase activity
- cGMP binding