CNGA3 (cyclic nucleotide gated channel subunit alpha 3)

2012-09-01  

Identity

HGNC
CNGA3
LOCATION
2q11.2
LOCUSID
1261
ALIAS
ACHM2,CCNC1,CCNCa,CCNCalpha,CNCG3,CNG3

Other Information

Locus ID:

NCBI: 1261
MIM: 600053
HGNC: 2150
Ensembl: ENSG00000144191

Variants:

dbSNP: 1261
ClinVar: 1261
TCGA: ENSG00000144191
COSMIC: CNGA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144191ENST00000272602Q16281
ENSG00000144191ENST00000436404Q16281

Expression (GTEx)

0
5
10
15
20
25
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
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
hypothalamus
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

References

Pubmed IDYearTitleCitations
368019182023Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.2
373724762023Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.0
376899942023Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.0
368019182023Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.2
373724762023Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.0
376899942023Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.0
352331022022Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.8
353326182022Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.8
354564232022Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.0
352331022022Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.8
353326182022Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.8
354564232022Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families.0
328691082021Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.0
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
328691082021Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.0

Citation

Dessen P

CNGA3 (cyclic nucleotide gated channel subunit alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52850/teaching-explorer/deep-insight-explorer/js/_common.js