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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, cyclic nucleotide gated channel subunit alpha 3
External IDsOMIM: 600053 MGI: 1341818 HomoloGene: 994 GeneCards: CNGA3
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for CNGA3
Genomic location for CNGA3
Band2q11.2Start98,346,155 bp[1]
End98,398,601 bp[1]
RNA expression pattern
PBB GE CNGA3 207261 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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. CNGA3 is expressed in cone photoreceptors and is necessary for color vision.[9] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern.[9] Two alternatively-spliced transcripts encoding different isoforms have been described.[8]

Clinical relevance

Variants in this gene have been shown to cause achromatopsia[10] and colour blindness.

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144191 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026114 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Distler M, Biel M, Flockerzi V, Hofmann F (November 1994). "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, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E (December 1997). "Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors". The European Journal of Neuroscience. 9 (12): 2512–21. doi:10.1111/j.1460-9568.1997.tb01680.x. PMID 9517456.
  7. ^ Hofmann F, Biel M, Kaupp UB (December 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102.
  8. ^ a b "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
  9. ^ a b Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, et al. (July 1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel". Nature Genetics. 19 (3): 257–9. doi:10.1038/935. PMID 9662398.
  10. ^ Lam K, Guo H, Wilson GA, Kohl S, Wong F (September 2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology. 129 (9): 1212–7. doi:10.1001/archophthalmol.2011.254. PMID 21911670.

Further reading

External links

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