CNGA2 (cyclic nucleotide gated channel subunit alpha 2)

2014-11-01  

Identity

HGNC
CNGA2
LOCATION
Xq28
LOCUSID
1260
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
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
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
N/A

References

Pubmed IDYearTitleCitations
251569052015The first mutation in CNGA2 in two brothers with anosmia.5
165338952006A single P-loop glutamate point mutation to either lysine or arginine switches the cation-anion selectivity of the CNGA2 channel.3
285726882017Isolated Congenital Anosmia and CNGA2 Mutation.2

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