CNGB1 (cyclic nucleotide gated channel subunit beta 1)

2014-08-01  

Identity

HGNC
CNGB1
LOCATION
16q21
LOCUSID
1258
ALIAS
CNCG2,CNCG3L,CNCG4,CNG4,CNGB1B,GAR1,GARP,GARP2,RCNC2,RCNCb,RCNCbeta,RP45
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1258
MIM: 600724
HGNC: 2151
Ensembl: ENSG00000070729

Variants:

dbSNP: 1258
ClinVar: 1258
TCGA: ENSG00000070729
COSMIC: CNGB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070729ENST00000251102Q14028
ENSG00000070729ENST00000311183Q14028
ENSG00000070729ENST00000562761H3BQC3
ENSG00000070729ENST00000564448Q14028
ENSG00000070729ENST00000564654A0A2R8Y6Y0
ENSG00000070729ENST00000565942H3BQW3

Expression (GTEx)

0
1
2
3
4
5
6
7
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Olfactory transductionKEGGko04740
Olfactory transductionKEGGhsa04740
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
cGMP signalingKEGGhsa_M00694
cGMP signalingKEGGM00694
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
VxPx cargo-targeting to ciliumREACTOMER-HSA-5620916
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

References

Pubmed IDYearTitleCitations
370560492023Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.1
370560492023Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.1
349717602022Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map.8
349717602022Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map.8
334653332021Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.6
338470192021CNGB1-related rod-cone dystrophy: A mutation review and update.16
342097532021Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.1
334653332021Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.6
338470192021CNGB1-related rod-cone dystrophy: A mutation review and update.16
342097532021Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.1
292024632018Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.32
298000532018Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.7
304518052018Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.5
292024632018Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.32
298000532018Olfactory 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)