Cyclic nucleotide-gated channel alpha 3

Cyclic nucleotide-gated channel alpha 3
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_001079878.1 NM_009918.1
RefSeq (protein) NP_001073347.1 NP_034048.1
Location (UCSC) Chr 2:
98.96 – 99.02 Mb
Chr 1:
37.28 – 37.32 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. Two alternatively-spliced transcripts encoding different isoforms have been described.[4]


Clinical relevance

Variants in this gene have been shown to cause achromatopsia[5] and color blindness.

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. doi:10.1016/0028-3908(94)90027-2. 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. doi:10.1111/j.1460-9568.1997.tb01680.x. 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". 
  5. ^ Lam, K; Guo, H, Wilson, GA, Kohl, S, Wong, F (2011 Sep). "Identification of Variants in CNGA3 as Cause for Achromatopsia by Exome Sequencing of a Single Patient.". Archives of ophthalmology 129 (9): 1212–7. PMID 21911670. 

Further reading

External Links

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

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