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: 54714
MIM: 605080
HGNC: 2153
Ensembl: ENSG00000170289
Variants:
dbSNP: 54714
ClinVar: 54714
TCGA: ENSG00000170289
COSMIC: CNGB3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170289 | ENST00000320005 | Q9NQW8 |
| ENSG00000170289 | ENST00000517327 | H0YAZ4 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| cAMP signaling pathway | KEGG | hsa04024 |
| cAMP signaling pathway | KEGG | ko04024 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134850558 | Macular Degeneration | Disease | Literature, MultilinkAnnotation | associated | 24949630 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37158316 | 2024 | Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3. | 0 |
| 37158316 | 2024 | Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3. | 0 |
| 37372476 | 2023 | Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. | 0 |
| 37372476 | 2023 | Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. | 0 |
| 33560291 | 2021 | Ametropia and Emmetropization in CNGB3 Achromatopsia. | 3 |
| 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 |
| 34703197 | 2021 | A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients. | 2 |
| 33560291 | 2021 | Ametropia and Emmetropization in CNGB3 Achromatopsia. | 3 |
| 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 |
| 34703197 | 2021 | A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients. | 2 |
| 31544997 | 2020 | Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. | 19 |
| 32151571 | 2020 | Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia. | 2 |
| 31544997 | 2020 | Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. | 19 |
| 32151571 | 2020 | Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia. | 2 |
| 32397729 | 2019 | Molecular genetic cause of achromatopsia in two patients of Czech origin. | 0 |
Citation
Dessen P
CNGB3 (cyclic nucleotide gated channel subunit beta 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40112/cngb3
