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
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
192996212009Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia.40
263433732015Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP.40
211235692010Channel modulation and the mechanism of light adaptation in mouse rods.26
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
292024632018Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.11
269016712016Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.4
201264652010The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.3
267204712015Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function.3

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)