PDE6C Gene Summary [Human]
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | PDE6C |
| Official Name | phosphodiesterase 6C [Source:HGNC Symbol;Acc:HGNC:8787] |
| Ensembl ID | ENSG00000095464 |
| Bio databases IDs | |
| Aliases | phosphodiesterase 6C, Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha |
| Synonyms | ACHM5, COD4, cpfl1, PDE6alpha', PDE6α', PDEA2, phosphodiesterase 6C, phosphodiesterase 6C, cGMP specific, cone, alpha prime, phosphodiesterase 6C, cGMP specific, cone, α prime |
| 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 PDE6C 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
- 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 PDE6C 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
- achromatopsia type 5
- achromatopsia
- major depression
- cone dystrophy
- retinal dystrophy
- cone dystrophy type 4
- Huntington disease
- autosomal recessive achromatopsia
- spinocerebellar ataxia type 7
role in cell
- development
- density
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 PDE6C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phototransduction, visible light
- visual perception
- retinal cone cell development
- cAMP-mediated signaling
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- 3',5'-cyclic-GMP phosphodiesterase activity
- cGMP binding
- 3',5'-cyclic-AMP phosphodiesterase activity