CNGB3 (cyclic nucleotide gated channel subunit beta 3)

2003-05-01 Affiliation

Identity

HGNC

CNGB3

LOCATION

8q21.3

LOCUSID

54714

ALIAS

ACHM1

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: 54714
MIM: 605080
HGNC: 2153
Ensembl: ENSG00000170289

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000170289	ENST00000320005	Q9NQW8
ENSG00000170289	ENST00000517327	H0YAZ4

Expression (GTEx)

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

Pathway	Source	External ID
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA134850558	Macular Degeneration	Disease	Literature, MultilinkAnnotation	associated			24949630

References

Pubmed ID	Year	Title	Citations
37158316	2024	Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.	0
37158316	2024	Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.	0
37372476	2023	Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.	0
37372476	2023	Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.	0
33560291	2021	Ametropia and Emmetropization in CNGB3 Achromatopsia.	3
34449556	2021	Disease 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
34703197	2021	A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.	2
33560291	2021	Ametropia and Emmetropization in CNGB3 Achromatopsia.	3
34449556	2021	Disease 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
34703197	2021	A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.	2
31544997	2020	Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.	19
32151571	2020	Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.	2
31544997	2020	Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.	19
32151571	2020	Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.	2
32397729	2019	Molecular 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/gene-fusions-explorer/css/lib/favicon/favicon-32x32.png