AlphaFold predicted structure
CNGA3 · Q16281

Mean pLDDT
74.4/ 100
Confident
694 residues
Confidence breakdown
- Very high(≥ 90)43%
- Confident(70–90)29%
- Low(50–70)4%
- Very low(< 50)23%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
cyclic nucleotide gated channel subunit alpha 3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomalachromatopsia
achromatopsia 2
Retinal dystrophy
Cone rod dystrophy
cone-rod dystrophy
CNGA3-related retinopathy
cone dystrophy
hereditary disease
Abnormality of the eye
Rod-cone dystrophy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cyclic nucleotide-gated channel alpha-3
Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyperpolarization that ultimately slows neurotransmitter release and signals the presence of light, the end point of the phototransduction cascade (PubMed:10888875, PubMed:12815043, PubMed:34969976, PubMed:37463923). Pore-forming subunit of the gustatory cyclic nucleotide-gated channel. In the taste buds, may sense oral extracellular pH and conduct ion currents that modulate the excitability of taste cells (By similarity). Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations (By similarity) (PubMed:12815043)
Curated MONDO disease pages that list CNGA3 among their top associated genes.
CNGA3 · Q16281

Mean pLDDT
74.4/ 100
Confident
694 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0