CNGB3 (cyclic nucleotide gated channel subunit beta 3)

2003-05-01  

Identity

HGNC
CNGB3
LOCATION
8q21.3
LOCUSID
54714
ALIAS
ACHM1

Other Information

Locus ID:

NCBI: 54714
MIM: 605080
HGNC: 2153
Ensembl: ENSG00000170289

Variants:

dbSNP: 54714
ClinVar: 54714
TCGA: ENSG00000170289
COSMIC: CNGB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170289ENST00000320005Q9NQW8
ENSG00000170289ENST00000517327H0YAZ4

Expression (GTEx)

0
1
2
3
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
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134850558Macular DegenerationDiseaseLiterature, MultilinkAnnotationassociated24949630

References

Pubmed IDYearTitleCitations
203786082010Gene therapy rescues cone function in congenital achromatopsia.99
156576092005CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.73
156576092005CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
157122252005Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.50
151346372004Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.43
197672952009Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.39
176512542007Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.37
195921002009Genetic etiology and clinical consequences of complete and incomplete achromatopsia.37
195921002009Genetic etiology and clinical consequences of complete and incomplete achromatopsia.37

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