CNGB3 Gene Summary [Human]
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | CNGB3 |
| Official Name | cyclic nucleotide gated channel subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:2153] |
| Ensembl ID | ENSG00000170289 |
| Bio databases IDs | |
| Aliases | cyclic nucleotide gated channel subunit beta 3 |
| Synonyms | ACHM1, CCNC2, CNG6, Cngbeta2, cyclic nucleotide gated channel beta 3, cyclic nucleotide gated channel subunit beta 3, cyclic nucleotide gated channel subunit β 3, cyclic nucleotide gated channel β 3, RGD1565364 |
| 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 CNGB3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cyclic nucleotide-binding domain
- Ion transport protein
- intracellular cGMP activated cation channel
- intracellular cAMP activated cation channel
- protein binding
- ion channel
- 3',5'-cGMP binding
- Cyclic nucleotide-monophosphate binding domain
- CAP_ED
Pathways
Biological processes and signaling networks where the CNGB3 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 3
- achromatopsia
- retinal dystrophy
- non-insulin-dependent diabetes mellitus
- optic atrophy
- CNGB3-related disorder
- acro-dermato-ungual-lacrimal-tooth syndrome
- anxiety disorder
- stress related disorder
- cone-rod dystrophy
role in cell
- number
- adaptation
- function
- degeneration
- photoresponse
- electrophysiology
- 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.
- Plasma Membrane
- cellular membrane
- photoreceptor outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNGB3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cation transport
- signal transduction
- visual perception
Cellular Component
Where in the cell the gene product is active
- intracellular cyclic nucleotide activated cation channel complex
- plasma membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- intracellular cAMP activated cation channel activity
- intracellular cGMP activated cation channel activity
- cGMP binding