Cyclic nucleotide-gated channel alpha 3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
CNGA3
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CNGA3, ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3
External IDs 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
Band 2q11.2 Start 98,346,155 bp[1]
End 98,398,601 bp[1]
RNA expression pattern
PBB GE CNGA3 207261 at fs.png
More reference expression data
Orthologs
Species Human Mouse
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 Mb Chr 2: 37.21 – 37.26 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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[edit]

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[edit]

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

See also[edit]

References[edit]

  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:". 
  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. PMID 7532814. doi:10.1016/0028-3908(94)90027-2. 
  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. PMID 9517456. doi:10.1111/j.1460-9568.1997.tb01680.x. 
  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. PMID 16382102. doi:10.1124/pr.57.4.8. 
  8. ^ a b "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. PMID 21911670. doi:10.1001/archophthalmol.2011.254. 

Further reading[edit]

External links[edit]

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