Contents:
- Gene and Protein Information
- Previous and Unofficial Names
- Database Links
- Associated Proteins
- Functional Characteristics
- Ion Selectivity and Conductance
- Rank order lists
- Activators
- Inhibitors
- Tissue Distribution
- Physiological Functions
- Phenotypes, Alleles and Disease Models
- Clinically-Relevant Mutations and Pathophysiology
- General Comments
- References
- Contributors
- How to cite this page
Gene and Protein Information  |
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| Species | TM | P Loops | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
| Human | 6 | 1 | 694 | 2q11.2 | CNGA3 | cyclic nucleotide gated channel subunit alpha 3 | 26,28 |
| Mouse | 3 | 1 | 631 | 1 B | Cnga3 | cyclic nucleotide gated channel alpha 3 | 7 |
| Rat | 6 | 1 | 611 | 9q21 | Cnga3 | cyclic nucleotide gated channel subunit alpha 3 | 16 |
| Previous and Unofficial Names |
| CCNC1 | ACHM2 | CNCG3 | CCNCa |
| Database Links |
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| CATH/Gene3D | 2.60.120.10 |
| Ensembl Gene | ENSG00000144191 (Hs), ENSMUSG00000026114 (Mm), ENSRNOG00000017582 (Rn) |
| Entrez Gene | 1261 (Hs), 12790 (Mm), 85257 (Rn) |
| Human Protein Atlas | ENSG00000144191 (Hs) |
| KEGG Gene | hsa:1261 (Hs), mmu:12790 (Mm), rno:85257 (Rn) |
| OMIM | 600053 (Hs) |
| Orphanet | ORPHA120671 (Hs) |
| Pharos | Q16281 (Hs) |
| RefSeq Nucleotide | NM_001298 (Hs), NM_009918 (Mm), NM_053495 (Rn) |
| RefSeq Protein | NP_001073347 (Hs), NP_034048 (Mm), NP_445947 (Rn) |
| UniProtKB | Q16281 (Hs), Q9JJZ8 (Mm) |
| Wikipedia | CNGA3 (Hs) |
| Associated Proteins |
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| Functional Characteristics |
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γ = 40 pS PCa/PNa = 10.9 |
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| Ion Selectivity and Conductance |
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| Activators (Human) |
| cyclic GMP (EC50 ~ 30 μM) >> cyclic AMP |
Download all structure-activity data for this target as a CSV file 
| Activators | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Key to terms and symbols | View all chemical structures | Click column headers to sort | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| View species-specific activator tables | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inhibitors | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Key to terms and symbols | View all chemical structures | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Tissue Distribution
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| Physiological Functions
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| Phenotypes, Alleles and Disease Models
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Mouse data from MGI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Clinically-Relevant Mutations and Pathophysiology
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| General Comments |
| CNGA3 is also expressed in bovine sperm [4,9,23-24]. The physiological relevance in this cell type is unclear. Mice lacking the CNGA3 subunit show normal fertility [3]. |
References
1. Ahuja Y, Kohl S, Traboulsi EI. (2008) CNGA3 mutations in two United Arab Emirates families with achromatopsia. Mol. Vis., 14: 1293-7. [PMID:18636117]
2. Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S et al.. (2010) Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol. Vis., 16: 774-81. [PMID:20454696]
3. Biel M, Seeliger M, Pfeifer A, Kohler K, Gerstner A, Ludwig A, Jaissle G, Fauser S, Zrenner E, Hofmann F. (1999) Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc. Natl. Acad. Sci. U.S.A., 96 (13): 7553-7. [PMID:10377453]
4. Biel M, Zong X, Distler M, Bosse E, Klugbauer N, Murakami M, Flockerzi V, Hofmann F. (1994) Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart. Proc. Natl. Acad. Sci. U.S.A., 91 (9): 3505-9. [PMID:8170936]
5. Gerstner A, Zong X, Hofmann F, Biel M. (2000) Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. J. Neurosci., 20 (4): 1324-32. [PMID:10662822]
6. Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K. (2006) Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. Vis. Neurosci., 23 (3-4): 395-402. [PMID:16961972]
7. Hirano AA, Hack I, Wässle H, Duvoisin RM. (2000) Cloning and immunocytochemical localization of a cyclic nucleotide-gated channel alpha-subunit to all cone photoreceptors in the mouse retina. J. Comp. Neurol., 421 (1): 80-94. [PMID:10813773]
8. Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. (2004) Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J. Med. Genet., 41 (2): e20. [PMID:14757870]
9. Kaupp UB, Seifert R. (2002) Cyclic nucleotide-gated ion channels. Physiol. Rev., 82 (3): 769-824. [PMID:12087135]
10. Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B. (2008) Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur. J. Neurosci., 27 (9): 2391-401. [PMID:18445228]
11. Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. (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. [PMID:9662398]
12. Lee HM, Park YS, Kim W, Park CS. (2001) Electrophysiological characteristics of rat gustatory cyclic nucleotide--gated channel expressed in Xenopus oocytes. J. Neurophysiol., 85 (6): 2335-49. [PMID:11387380]
13. Matveev AV, Quiambao AB, Browning Fitzgerald J, Ding XQ. (2008) Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice. J. Neurochem., 106 (5): 2042-55. [PMID:18665891]
14. Meyer MR, Angele A, Kremmer E, Kaupp UB, Muller F. (2000) A cGMP-signaling pathway in a subset of olfactory sensory neurons. Proc. Natl. Acad. Sci. U.S.A., 97 (19): 10595-600. [PMID:10984544]
15. Misaka T, Ishimaru Y, Iwabuchi K, Kusakabe Y, Arai S, Emori Y, Abe K. (1999) A gustatory cyclic nucleotide-gated channels CNGgust, is expressed in the retina. Neuroreport, 10 (4): 743-6. [PMID:10208541]
16. Misaka T, Kusakabe Y, Emori Y, Gonoi T, Arai S, Abe K. (1997) Taste buds have a cyclic nucleotide-activated channel, CNGgust. J. Biol. Chem., 272 (36): 22623-9. [PMID:9278419]
17. Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. (2005) 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. [PMID:15712225]
18. Peng C, Rich ED, Thor CA, Varnum MD. (2003) Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. J. Biol. Chem., 278 (27): 24617-23. [PMID:12730238]
19. Peng C, Rich ED, Varnum MD. (2003) Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. J. Biol. Chem., 278 (36): 34533-40. [PMID:12815043]
20. Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B, Achromatopsia Clinical Study Group. (2008) Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum. Mutat., 29 (10): 1228-36. [PMID:18521937]
21. Selvakumar D, Drescher MJ, Dowdall JR, Khan KM, Hatfield JS, Ramakrishnan NA, Drescher DG. (2012) CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1. Biochem. J., 443 (2): 463-76. [PMID:22248097]
22. Selvakumar D, Drescher MJ, Drescher DG. (2013) Cyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction. J. Biol. Chem., 288 (10): 7215-29. [PMID:23329832]
23. Weyand I, Godde M, Frings S, Weiner J, Müller F, Altenhofen W, Hatt H, Kaupp UB. (1994) Cloning and functional expression of a cyclic-nucleotide-gated channel from mammalian sperm. Nature, 368 (6474): 859-63. [PMID:7512693]
24. Wiesner B, Weiner J, Middendorff R, Hagen V, Kaupp UB, Weyand I. (1998) Cyclic nucleotide-gated channels on the flagellum control Ca2+ entry into sperm. J. Cell Biol., 142 (2): 473-84. [PMID:9679145]
25. Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. (2001) CNGA3 mutations in hereditary cone photoreceptor disorders. Am. J. Hum. Genet., 69 (4): 722-37. [PMID:11536077]
26. Wissinger B, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E. (1997) 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]
27. Wiszniewski W, Lewis RA, Lupski JR. (2007) Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum. Genet., 121 (3-4): 433-9. [PMID:17265047]
28. Yu WP, Grunwald ME, Yau KW. (1996) Molecular cloning, functional expression and chromosomal localization of a human homolog of the cyclic nucleotide-gated ion channel of retinal cone photoreceptors. FEBS Lett., 393 (2-3): 211-5. [PMID:8814292]
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