Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1261
MIM: 600053
HGNC: 2150
Ensembl: ENSG00000144191
Variants:
dbSNP: 1261
ClinVar: 1261
TCGA: ENSG00000144191
COSMIC: CNGA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000144191 | ENST00000272602 | Q16281 |
| ENSG00000144191 | ENST00000436404 | Q16281 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Olfactory transduction | KEGG | ko04740 |
| Olfactory transduction | KEGG | hsa04740 |
| cAMP signaling pathway | KEGG | hsa04024 |
| cAMP signaling pathway | KEGG | ko04024 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36801918 | 2023 | Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing. | 2 |
| 37372476 | 2023 | Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. | 0 |
| 37689994 | 2023 | Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia. | 0 |
| 36801918 | 2023 | Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing. | 2 |
| 37372476 | 2023 | Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. | 0 |
| 37689994 | 2023 | Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia. | 0 |
| 35233102 | 2022 | Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel. | 8 |
| 35332618 | 2022 | Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. | 8 |
| 35456423 | 2022 | Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families. | 0 |
| 35233102 | 2022 | Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel. | 8 |
| 35332618 | 2022 | Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. | 8 |
| 35456423 | 2022 | Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families. | 0 |
| 32869108 | 2021 | Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes. | 0 |
| 34449556 | 2021 | Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies. | 4 |
| 32869108 | 2021 | Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes. | 0 |
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
