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CNGA3

Chr 2q11.2

cyclic nucleotide gated channel subunit alpha 3

Aliases:
CCNC1, CCNCa, CNG3
MANE:
ENST00000272602.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • achromatopsia

    0.84
  • achromatopsia 2

    0.71
  • Retinal dystrophy

    0.57
  • Cone rod dystrophy

    0.55
  • cone-rod dystrophy

    0.55
  • CNGA3-related retinopathy

    0.49
  • cone dystrophy

    0.48
  • hereditary disease

    0.47
  • Abnormality of the eye

    0.43
  • Rod-cone dystrophy

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

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.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.