Cyclic nucleotide-gated channel alpha 3

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

CNGA3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3SWY
Identifiers
Aliases	CNGA3, 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 IDs	OMIM: 600053; MGI: 1341818; HomoloGene: 994; GeneCards: CNGA3; OMA:CNGA3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q11.2 Start 98,346,188 bp[1] End 98,398,601 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 B Start 37,253,515 bp[2] End 37,302,465 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone testicle ganglionic eminence islet of Langerhans pituitary gland anterior pituitary muscle layer of sigmoid colon gastric mucosa right uterine tube C1 segment Top expressed in neural layer of retina spermatid embryo quadriceps femoris muscle male reproductive system testicle muscle tissue blastocyst anterior segment of eyeball lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function intracellular cGMP-activated cation channel activity nucleotide binding cGMP binding ion channel activity ligand-gated ion channel activity voltage-gated potassium channel activity protein C-terminus binding intracellular cAMP-activated cation channel activity Cellular component cytoplasm integral component of membrane perikaryon membrane soma dendrite photoreceptor outer segment membrane transmembrane transporter complex integral component of plasma membrane plasma membrane axon initial segment glial cell projection Biological process response to stimulus regulation of membrane potential cation transport response to magnesium ion ion transport ion transmembrane transport response to corticosteroid transmembrane transport response to cAMP signal transduction visual perception cation transmembrane transport potassium ion transmembrane transport inorganic cation import across plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 1: 37.25 – 37.3 Mb PubMed search [3] [4]
Wikidata
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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

• Cyclic nucleotide-gated ion channel