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Cyclic nucleotide-gated channel alpha 3: Wikis


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Cyclic nucleotide-gated channel alpha 3
Symbols CNGA3; ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3
External IDs OMIM600053 MGI1341818 HomoloGene994 IUPHAR: CNGA3 GeneCards: CNGA3 Gene
RNA expression pattern
PBB GE CNGA3 207261 at tn.png
More reference expression data
Species Human Mouse
Entrez 1261 12790
Ensembl ENSG00000144191 ENSMUSG00000026114
UniProt Q16281 Q8CFV6
RefSeq (mRNA) NM_001079878 XM_986103
RefSeq (protein) NP_001073347 XP_991197
Location (UCSC) Chr 2:
98.35 - 98.38 Mb
Chr 1:
37.16 - 37.21 Mb
PubMed search [1] [2]

Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[1][2][3][4]

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively-spliced transcripts encoding different isoforms have been described.[4]


See also


  1. ^ Distler M, Biel M, Flockerzi V, Hofmann F (Mar 1995). "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells". Neuropharmacology 33 (11): 1275-82. PMID 7532814.  
  2. ^ Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E (Apr 1998). "Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors". Eur J Neurosci 9 (12): 2512-21. PMID 9517456.  
  3. ^ Hofmann F, Biel M, Kaupp UB (Dec 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacol Rev 57 (4): 455-62. doi:10.1124/pr.57.4.8. PMID 16382102.  
  4. ^ a b "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".  

Further reading

  • Arbour NC, Zlotogora J, Knowlton RG, et al. (1997). "Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.". Hum. Mol. Genet. 6 (5): 689–94. doi:10.1093/hmg/6.5.689. PMID 9158143.  
  • Kohl S, Marx T, Giddings I, et al. (1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.". Nat. Genet. 19 (3): 257–9. doi:10.1038/935. PMID 9662398.  
  • Wissinger B, Jägle H, Kohl S, et al. (1998). "Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.". Genomics 51 (3): 325–31. doi:10.1006/geno.1998.5390. PMID 9721202.  
  • Sundin OH, Yang JM, Li Y, et al. (2000). "Genetic basis of total colourblindness among the Pingelapese islanders.". Nat. Genet. 25 (3): 289–93. doi:10.1038/77162. PMID 10888875.  
  • Wissinger B, Gamer D, Jägle H, et al. (2001). "CNGA3 mutations in hereditary cone photoreceptor disorders.". Am. J. Hum. Genet. 69 (4): 722–37. doi:10.1086/323613. PMID 11536077.  
  • Zhong H, Molday LL, Molday RS, Yau KW (2002). "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.". Nature 420 (6912): 193–8. doi:10.1038/nature01201. PMID 12432397.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Johnson S, Michaelides M, Aligianis IA, et al. (2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.". J. Med. Genet. 41 (2): e20. doi:10.1136/jmg.2003.011437. PMID 14757870.  
  • Faillace MP, Bernabeu RO, Korenbrot JI (2004). "Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif.". J. Biol. Chem. 279 (21): 22643–53. doi:10.1074/jbc.M400035200. PMID 15024024.  
  • Peng C, Rich ED, Varnum MD (2004). "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.". Neuron 42 (3): 401–10. doi:10.1016/S0896-6273(04)00225-9. PMID 15134637.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Nishiguchi KM, Sandberg MA, Gorji N, et al. (2006). "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.". Hum. Mutat. 25 (3): 248–58. doi:10.1002/humu.20142. PMID 15712225.  
  • Liu C, Varnum MD (2005). "Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.". Am. J. Physiol., Cell Physiol. 289 (1): C187–98. doi:10.1152/ajpcell.00490.2004. PMID 15743887.  
  • Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.". Nature 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.  
  • Varsányi B, Wissinger B, Kohl S, et al. (2006). "Clinical and genetic features of Hungarian achromatopsia patients.". Mol. Vis. 11: 996–1001. PMID 16319819.  
  • Goto-Omoto S, Hayashi T, Gekka T, et al. (2006). "Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.". Vis. Neurosci. 23 (3-4): 395–402. doi:10.1017/S095252380623308X. PMID 16961972.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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