CNGA2 (cyclic nucleotide gated channel subunit alpha 2)

2014-11-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
CNCA,CNCA1,CNG2,OCNC1,OCNCALPHA,OCNCa

Other Information

Locus ID:

NCBI: 1260
MIM: 300338
HGNC: 2149
Ensembl: ENSG00000183862

Variants:

dbSNP: 1260
ClinVar: 1260
TCGA: ENSG00000183862
COSMIC: CNGA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183862ENST00000329903Q16280

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Olfactory transductionKEGGko04740
Olfactory transductionKEGGhsa04740
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
VxPx cargo-targeting to ciliumREACTOMER-HSA-5620916

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
285726882017Isolated Congenital Anosmia and CNGA2 Mutation.8
285726882017Isolated Congenital Anosmia and CNGA2 Mutation.8
251569052015The first mutation in CNGA2 in two brothers with anosmia.11
251569052015The first mutation in CNGA2 in two brothers with anosmia.11
165338952006A single P-loop glutamate point mutation to either lysine or arginine switches the cation-anion selectivity of the CNGA2 channel.3
165338952006A single P-loop glutamate point mutation to either lysine or arginine switches the cation-anion selectivity of the CNGA2 channel.3

Citation

Dessen P

CNGA2 (cyclic nucleotide gated channel subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61933/cnga2-(cyclic-nucleotide-gated-channel-subunit-alpha-2)