Cyclic nucleotide-gated channel alpha 3

Cyclic nucleotide gated channel alpha 3
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3SWY​
Identifiers
Symbols	CNGA3 ; ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3
External IDs	OMIM: 600053 MGI: 1341818 HomoloGene: 994 IUPHAR: 396 ChEMBL: 1628463 GeneCards: CNGA3 Gene
Gene ontology Molecular function • intracellular cAMP activated cation channel activity • intracellular cGMP activated cation channel activity • voltage-gated potassium channel activity • ligand-gated ion channel activity • cGMP binding Cellular component • photoreceptor outer segment • integral component of plasma membrane • transmembrane transporter complex Biological process • transport • cation transport • signal transduction • visual perception • regulation of membrane potential • retinal cone cell development • potassium ion transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1261	12790
Ensembl	ENSG00000144191	ENSMUSG00000026114
UniProt	Q16281	Q9JJZ8
RefSeq (mRNA)	NM_001079878	NM_001282010
RefSeq (protein)	NP_001073347	NP_001268939
Location (UCSC)	Chr 2: 98.35 – 98.4 Mb	Chr 1: 37.21 – 37.26 Mb
PubMed search

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

Function

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 colour blindness.

See also

• Cyclic nucleotide-gated ion channel

References

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. "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
5. Lam K, Guo H, Wilson GA, Kohl S, Wong F (2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Arch. Ophthalmol. 129 (9): 1212–7. doi:10.1001/archophthalmol.2011.254. PMID 21911670.

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. PMC 1226059. 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. PMC 2877395. 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. PMC 139241. 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. PMC 1735666. 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. PMC 528928. 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

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia
• CNGA3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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