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Gene Review

CNGB3  -  cyclic nucleotide gated channel beta 3

Homo sapiens

Synonyms: CNG channel beta-3, Cone photoreceptor cGMP-gated channel subunit beta, Cyclic nucleotide-gated cation channel beta-3, Cyclic nucleotide-gated cation channel modulatory subunit, Cyclic nucleotide-gated channel beta-3
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Disease relevance of CNGB3

  • Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans [1].
  • Based on our findings, CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration [2].

High impact information on CNGB3


Biological context of CNGB3


Anatomical context of CNGB3

  • Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels [1].
  • Co-expression in Xenopus oocytes of human CNGA3 (hCNGA3) subunits with hCNGB3 subunits containing an achromatopsia-associated mutation in the S6 transmembrane domain (S435F) generated functional heteromeric channels that exhibited an increase in apparent affinity for both cAMP and cGMP compared with wild type heteromeric channels [1].

Associations of CNGB3 with chemical compounds

  • Thus, both NH2- and COOH-terminal CaM-binding sites in CNGB3 are functionally important for regulation of recombinant cone CNG channels [10].
  • However, the tyrosine residue in CNGB3 (Tyr545) that is equivalent to the critical tyrosine residues in rod and olfactory CNG channel subunits does not participate in cone channel regulation [11].
  • Furthermore, the changes in ligand sensitivity of CNGA3 + CNGB3 channels were prevented by inhibition of phosphatidylinositol 3-kinase (PI3-kinase) using wortmannin or 2-(4-morpholinyl)-8-phenyl-1(4H)-benzopyran-4-one hydrochloride (LY294002), which suggests that phospholipid metabolism can regulate the channels [11].
  • Glycerol treatment did not rescue channel function nor did coexpression with CNGB3, a subunit of native hetero-tetrameric cone channels [12].

Other interactions of CNGB3

  • Cone photoreceptor cyclic nucleotide-gated (CNG) channels are thought to form by assembly of two different subunit types, CNGA3 and CNGB3 [1].
  • Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder [6].
  • Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function [13].

Analytical, diagnostic and therapeutic context of CNGB3

  • Second, chemical crosslinking and co-immunoprecipitation studies using epitope-tagged monomer subunits both demonstrated the presence of two CNGB3 subunits in cone channels [4].
  • Using RT-PCR and RACE, we identified and cloned the human cDNA homologue, designated CNGB3, which encodes an 809 amino acid polypeptide [7].


  1. Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. Peng, C., Rich, E.D., Varnum, M.D. J. Biol. Chem. (2003) [Pubmed]
  2. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Nishiguchi, K.M., Sandberg, M.A., Gorji, N., Berson, E.L., Dryja, T.P. Hum. Mutat. (2005) [Pubmed]
  3. Genetic basis of total colourblindness among the Pingelapese islanders. Sundin, O.H., Yang, J.M., Li, Y., Zhu, D., Hurd, J.N., Mitchell, T.N., Silva, E.D., Maumenee, I.H. Nat. Genet. (2000) [Pubmed]
  4. Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Peng, C., Rich, E.D., Varnum, M.D. Neuron (2004) [Pubmed]
  5. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A. Hum. Mol. Genet. (2002) [Pubmed]
  6. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Kohl, S., Varsanyi, B., Antunes, G.A., Baumann, B., Hoyng, C.B., Jägle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andreasson, S., Weleber, R.G., Jacobson, S.G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M., Bitoun, P., Lev, D., Sieving, P.A., Munier, F.L., Zrenner, E., Sharpe, L.T., Cremers, F.P., Wissinger, B. Eur. J. Hum. Genet. (2005) [Pubmed]
  7. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Kohl, S., Baumann, B., Broghammer, M., Jägle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L.T., Wissinger, B. Hum. Mol. Genet. (2000) [Pubmed]
  8. Clinical and genetic features of Hungarian achromatopsia patients. Varsányi, B., Wissinger, B., Kohl, S., Koeppen, K., Farkas, A. Mol. Vis. (2005) [Pubmed]
  9. Progressive cone dystrophy associated with mutation in CNGB3. Michaelides, M., Aligianis, I.A., Ainsworth, J.R., Good, P., Mollon, J.D., Maher, E.R., Moore, A.T., Hunt, D.M. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  10. Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. Peng, C., Rich, E.D., Thor, C.A., Varnum, M.D. J. Biol. Chem. (2003) [Pubmed]
  11. Regulation of Human Cone Cyclic Nucleotide-Gated Channels by Endogenous Phospholipids and Exogenously Applied Phosphatidylinositol 3,4,5-trisphosphate. Bright, S.R., Rich, E.D., Varnum, M.D. Mol. Pharmacol. (2007) [Pubmed]
  12. Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Patel, K.A., Bartoli, K.M., Fandino, R.A., Ngatchou, A.N., Woch, G., Carey, J., Tanaka, J.C. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  13. Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. Okada, A., Ueyama, H., Toyoda, F., Oda, S., Ding, W.G., Tanabe, S., Yamade, S., Matsuura, H., Ohkubo, I., Kani, K. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
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