CNGA3
Cyclic Nucleotide Gated Channel Alpha 3
Gene Information Card
| Symbol | CNGA3 |
|---|---|
| Full Name | Cyclic Nucleotide Gated Channel Subunit Alpha 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 1261 ncbi.nlm.nih.gov/gene/1261 |
| Ensembl ID | ENSG00000144136 |
| UniProt ID | Q16281 |
| OMIM ID | 600053 |
| HGNC ID | 2150 |
| Aliases | ACHM2, CNG3, CNGA3, CCNC1 |
Description
CNGA3 encodes the alpha subunit of the cyclic nucleotide-gated (CNG) channel in cone photoreceptors. This channel is essential for phototransduction, converting light-induced cGMP changes into electrical signals. CNGA3 mutations are a major cause of achromatopsia and cone dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achromatopsia 2 (ACHM2) | Loss-of-function mutations impair cGMP-gated channel function, preventing cone phototransduction | ClinVar, OMIM |
| Progressive Cone Dystrophy | Dominant-negative or hypomorphic variants lead to gradual cone degeneration | ClinVar, OMIM |
| Color Vision Deficiency | Missense mutations reduce channel conductance or cGMP sensitivity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 0.8 | Low |
| Brain | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | 0.0 | Not expressed |
| Y79 retinoblastoma | 0.0 | Not expressed |
| Cone photoreceptor cells | High | Predominant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1641C>A (p.Cys547*) | Nonsense | Rare | Truncated protein, loss of function |
| c.1306G>A (p.Gly436Arg) | Missense | Common in ACHM2 | Reduced cGMP sensitivity |
| c.848G>A (p.Arg283Gln) | Missense | Moderate | Impaired channel gating |
Mutation functional classification
Loss of Function (LOF)
Most CNGA3 mutations cause loss of function by disrupting channel assembly, trafficking, or cGMP binding.
Gain of Function (GOF)
Not reported for CNGA3.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg283Gln) exert dominant-negative effects when co-expressed with wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • voltage-gated potassium channel complex (GO:0008076) |
| • integral component of membrane (GO:0016021) | • cAMP binding (GO:0030552) |
| • cGMP binding (GO:0030553) | • mast cell granule (GO:0042629) |
| • auditory receptor cell stereocilium (GO:0060088) | • cGMP-gated cation channel activity (GO:0070679) |
Pathways
• Phototransduction cascade (Reactome R-HSA-2188538)
• cGMP-PKG signaling pathway (KEGG hsa04022)
Protein Summary
CNGA3 is a 694-amino acid protein with six transmembrane domains, a pore loop, and a cyclic nucleotide-binding domain. It forms heterotetrameric channels with CNGB3 in cone outer segments. The channel opens upon cGMP binding, allowing Na+ and Ca2+ influx, which hyperpolarizes the cone cell.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNGA3 Knockout HEK293 Cell Line | EDJ-KQ1802 | Human | 1261 | Details Get a Quote |
| CNGA3 Knockout HeLa Cell Line | EDJ-KQ52943 | Human | 1261 | Details Get a Quote |
| CNGA3 Knockout A-549 Cell Line | EDJ-KQ61409 | Human | 1261 | Details Get a Quote |
| CNGA3 Knockout HCT 116 Cell Line | EDJ-KQ69903 | Human | 1261 | Details Get a Quote |
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