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
371583162024Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.0
371583162024Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.0
373724762023Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.0
373724762023Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.0
335602912021Ametropia and Emmetropization in CNGB3 Achromatopsia.3
344495562021Disease 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
347031972021A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.2
335602912021Ametropia and Emmetropization in CNGB3 Achromatopsia.3
344495562021Disease 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
347031972021A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.2
315449972020Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.19
321515712020Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.2
315449972020Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.19
321515712020Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.2
323977292019Molecular 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-(cyclic-nucleotide-gated-channel-subunit-beta-3)