AlphaFold predicted structure
CNGB3 · Q9NQW8
Mean pLDDT
68.1/ 100
Low
809 residues
Confidence breakdown
- Very high(≥ 90)33%
- Confident(70–90)25%
- Low(50–70)6%
- Very low(< 50)36%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CNGB3
Chr 8q21.3cyclic nucleotide gated channel subunit beta 3
- MANE:
- ENST00000320005.6
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
achromatopsia
0.83achromatopsia 3
0.73severe early-childhood-onset retinal dystrophy
0.57Retinal dystrophy
0.57CNGB3-related retinopathy
0.49Leber congenital amaurosis
0.47hereditary disease
0.47Abnormality of the eye
0.47retinal disorder
0.43color vision disorder
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cyclic nucleotide-gated channel beta-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. Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations
Diseases associated with CNGB3
Curated MONDO disease pages that list CNGB3 among their top associated genes.