CNGA3 (cyclic nucleotide gated channel subunit alpha 3)

2012-09-01  

Identity

HGNC
LOCATION
2q11.2
LOCUSID
ALIAS
ACHM2,CCNC1,CCNCa,CCNCalpha,CNCG3,CNG3

Other Information

Locus ID:

NCBI: 1261
MIM: 600053
HGNC: 2150
Ensembl: ENSG00000144191

Variants:

dbSNP: 1261
ClinVar: 1261
TCGA: ENSG00000144191
COSMIC: CNGA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144191ENST00000272602Q16281
ENSG00000144191ENST00000436404Q16281

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Olfactory transductionKEGGko04740
Olfactory transductionKEGGhsa04740
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
124323972002The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.88
115360772001CNGA3 mutations in hereditary cone photoreceptor disorders.81
157122252005Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.50
151346372004Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.43
195921002009Genetic etiology and clinical consequences of complete and incomplete achromatopsia.37
195921002009Genetic etiology and clinical consequences of complete and incomplete achromatopsia.37
147578702004Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.32
224934842012Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.27
219017892011Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.25
170185792007Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate.23

Citation

Dessen P

CNGA3 (cyclic nucleotide gated channel subunit alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52850/cnga3