Cyclic nucleotide-gated channel alpha 3

CNGA3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCNGA3, ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3
External IDsMGI: 1341818 HomoloGene: 994 GeneCards: CNGA3
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q11.2Start98,346,155 bp[1]
End98,398,601 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1261

12790

Ensembl

ENSG00000144191

ENSMUSG00000026114

UniProt

Q16281

Q9JJZ8

RefSeq (mRNA)

NM_001079878
NM_001298

NM_001282010
NM_009918

RefSeq (protein)

NP_001073347
NP_001289

NP_001268939
NP_034048

Location (UCSC)Chr 2: 98.35 – 98.4 MbChr 1: 37.21 – 37.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[5][6][7][8]

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.[8]

Clinical relevance

Variants in this gene have been shown to cause achromatopsia[9] and colour blindness.

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000144191 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026114 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. 1 2 "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
  9. ↑ 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.

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