Identity
HGNC
LOCATION
16q21
LOCUSID
ALIAS
CNCG2,CNCG3L,CNCG4,CNG4,CNGB1B,GAR1,GARP,GARP2,RCNC2,RCNCb,RCNCbeta,RP45
FUSION GENES
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: 1258
MIM: 600724
HGNC: 2151
Ensembl: ENSG00000070729
Variants:
dbSNP: 1258
ClinVar: 1258
TCGA: ENSG00000070729
COSMIC: CNGB1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37056049 | 2023 | Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa. | 1 |
| 37056049 | 2023 | Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa. | 1 |
| 34971760 | 2022 | Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map. | 8 |
| 34971760 | 2022 | Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map. | 8 |
| 33465333 | 2021 | Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1. | 6 |
| 33847019 | 2021 | CNGB1-related rod-cone dystrophy: A mutation review and update. | 16 |
| 34209753 | 2021 | Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases. | 1 |
| 33465333 | 2021 | Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1. | 6 |
| 33847019 | 2021 | CNGB1-related rod-cone dystrophy: A mutation review and update. | 16 |
| 34209753 | 2021 | Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases. | 1 |
| 29202463 | 2018 | Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach. | 32 |
| 29800053 | 2018 | Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. | 7 |
| 30451805 | 2018 | Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa. | 5 |
| 29202463 | 2018 | Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach. | 32 |
| 29800053 | 2018 | Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. | 7 |
Citation
Dessen P
CNGB1 (cyclic nucleotide gated channel subunit beta 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54224/cngb1-(cyclic-nucleotide-gated-channel-subunit-beta-1)
