CNGA1 (cyclic nucleotide gated channel subunit alpha 1)

2014-11-01  

Identity

HGNC
CNGA1
LOCATION
4p12
LOCUSID
1259
ALIAS
CNCG,CNCG1,CNG-1,CNG1,RCNC1,RCNCa,RCNCalpha,RP49

Other Information

Locus ID:

NCBI: 1259
MIM: 123825
HGNC: 2148
Ensembl: ENSG00000198515

Variants:

dbSNP: 1259
ClinVar: 1259
TCGA: ENSG00000198515
COSMIC: CNGA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198515ENST00000358519P29973
ENSG00000198515ENST00000358519A0A024R9X3
ENSG00000198515ENST00000402813P29973
ENSG00000198515ENST00000420489P29973
ENSG00000198515ENST00000420489A0A024R9X3
ENSG00000198515ENST00000504722D6RCF1
ENSG00000198515ENST00000513178D6R978
ENSG00000198515ENST00000514170P29973
ENSG00000198515ENST00000514170A0A024R9X3
ENSG00000198515ENST00000514520D6R978
ENSG00000198515ENST00000544810P29973

Expression (GTEx)

0
1
2
3
4
5
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
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
cGMP signalingKEGGhsa_M00694
cGMP signalingKEGGM00694
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
349717602022Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map.8
349717602022Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map.8
333327862021Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis.5
336332202021A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.4
333327862021Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis.5
336332202021A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.4
327052762020Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.3
327052762020Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.3
268021462016Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.13
273919532016Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.4
268021462016Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.13
273919532016Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.4
252681332014Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.30
252681332014Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.30
230326872012Insulin receptor regulates photoreceptor CNG channel activity.21

Citation

Dessen P

CNGA1 (cyclic nucleotide gated channel subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61932/case-report-explorer/css/js/lib/jquery-3.5.1.min.js