CNGA3 Gene Summary [Human]
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CNGA3 |
| Official Name | cyclic nucleotide gated channel subunit alpha 3 [Source:HGNC Symbol;Acc:HGNC:2150] |
| Ensembl ID | ENSG00000144191 |
| Bio databases IDs | |
| Aliases | cyclic nucleotide gated channel subunit alpha 3 |
| Synonyms | ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG-3, CNGgust, CONE-α, cyclic nucleotide gated channel alpha 3, cyclic nucleotide gated channel subunit alpha 3, cyclic nucleotide gated channel subunit α 3, cyclic nucleotide gated channel α 3 |
| 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 CNGA3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ion transport protein
- intracellular cGMP activated cation channel
- intracellular cAMP activated cation channel
- calmodulin binding domain
- protein binding
- intracellular cyclic nucleotide activated cation channel
- ion channel
- Cyclic nucleotide-monophosphate binding domain
- myosin binding
- Cyclic nucleotide-binding domain
- C-terminal leucine zipper domain of cyclic nucleotide-gated channels
- cytoplasmic domain
- ligand-gated ion channel
- cadherin binding
- CAP_ED
- 3',5'-cGMP binding
Pathways
Biological processes and signaling networks where the CNGA3 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
- retinal dystrophy
- achromatopsia type 2
- optic atrophy
- hereditary disorder
- cone dystrophy
- cone-rod dystrophy
- CNGA3-related retinopathy
- diabetic nephropathy
role in cell
- apoptosis
- activation
- degeneration
- depolarization
- number
- density
- stress response
- development
- abnormal morphology
- calcium response
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
- axon component
- cilia
- cellular membrane
- photoreceptor outer segments
- glial cell projections
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNGA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cation transport
- signal transduction
- calcium ion transmembrane transport
- response to magnesium ion
- response to cAMP
- sodium ion transmembrane transport
- visual perception
Cellular Component
Where in the cell the gene product is active
- dendrite
- initial segment
- intracellular cyclic nucleotide activated cation channel complex
- perikaryon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ligand-gated ion channel activity
- calcium channel activity
- cadherin binding
- sodium channel activity
- myosin binding
- intracellular cAMP activated cation channel activity
- intracellular cGMP activated cation channel activity
- cGMP binding