CNGA1 (cyclic nucleotide gated channel subunit alpha 1)

2014-11-01  

Identity

HGNC
LOCATION
4p12
LOCUSID
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

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
124323972002The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.88
252681332014Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.16
230326872012Insulin receptor regulates photoreceptor CNG channel activity.15
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
155702172004Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.9
123620482002Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.8
268021462016Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.4
157138322005Stage- and cell-specific expression of soluble guanylyl cyclase alpha and beta subunits, cGMP-dependent protein kinase I alpha and beta, and cyclic nucleotide-gated channel subunit 1 in the rat testis.3
123887672002An endogenous RNA transcript antisense to CNG(alpha)1 cation channel mRNA.1
273919532016Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.0

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/cnga1-(cyclic-nucleotide-gated-channel-subunit-alpha-1)