Cyclic nucleotide-gated channel alpha 3

Cyclic nucleotide gated channel alpha 3
Identifiers
Symbols	CNGA3; ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG3
External IDs	OMIM: 600053 MGI: 1341818 HomoloGene: 994 IUPHAR: CNGA3 GeneCards: CNGA3 Gene
Gene Ontology Molecular function • nucleotide binding • intracellular cyclic nucleotide activated cation channel activity • ligand-gated ion channel activity • cGMP binding Cellular component • photoreceptor outer segment • plasma membrane • integral to membrane Biological process • transport • ion transport • signal transduction • visual perception • response to stimulus • transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
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

• 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. ^ ^{a b} "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1261. 
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

• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226059. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2877395. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735666. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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
• MeSH CNGA3+protein,+human

Na+: Sodium channel
Constitutively active Epithelial sodium channel (α, β, γ, δ) Proton gated Amiloride-sensitive cation channel (1, 2, 3, 4) Voltage-gated Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) · Navβ (1, 2, 3, 4)

K+: Potassium channel
Voltage-gated Kvα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8) · (2.1, 2.2) · (3.1, 3.2, 3.3, 3.4) · (4.1, 4.2, 4.3) · (5.1) · (6.1, 6.2, 6.3, 6.4) Kvα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) · (8.1, 8.2) · (9.1, 9.2, 9.3) · (10.1, 10.2) · (11.1/hERG, 11.2, 11.3) · (12.1, 12.2, 12.3) Kvβ (1, 2, 3) · KCNIP (1, 2, 3, 4) · minK/ISK · minK/ISK-like · MiRP (1, 2, 3) · Shaker gene Calcium-activated BK channel (α1, β1, β2, β3, β4) · SK channel (SK1, SK2, SK3, SK4) · KCa (1.1, 2.1, 2.2, 2.3, 3.1, 4.1, 4.2, 5.1) Inward-rectifier KATP · Kir (1.1, 2.1, 2.2, 2.3, 2.4, 2.6) · GIRK/Kir (3.1, 3.2, 3.3, 3.4) · Kir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1) Tandem pore domain K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)

Other
Cl-: Chloride channel ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B) H+: Voltage-gated HVCN1 M+: TRP cation channel TRPA (1) · TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) · TRPM (1, 2, 3, 4, 5, 6, 7, 8) · TRPML (1, 2, 3) · TRPP (1, 2) · TRPV (1, 2, 3, 4, 5, 6) Cyclic nucleotide-gated (FC) α (1, 2, 3, 4) · β (1, 2, 3) · HCN (1, 2, 3, 4) Porin Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family Gap junction Connexin: A (GJA1, GJA3, GJA4, GJA5, GJA8, GJA9, GJA10) · B (GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GJB7) · C (GJC1, GJC2, GJC3) · D (GJD2, GJD3, GJD4)) Innexin General Ligand-gated ion channel · Voltage-gated ion channel · Stretch-activated ion channel

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