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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CNGA2
cyclic nucleotide gated channel subunit alpha 2
Chromosome X · Xq28
NCBI Gene: 1260Ensembl: ENSG00000183862.6HGNC: HGNC:2149UniProt: B3KXY3
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranecGMP bindingciliary membranenon-motile cilium membraneneurodegenerative diseaseLeber congenital amaurosis 10asthma, nasal polyps, and aspirin intoleranceAbsent thumb - short stature - immunodeficiency
✦AI Summary

CNGA2 encodes the pore-forming subunit of the olfactory cyclic nucleotide-gated channel, a heteromeric complex with CNGA4 and CNGB1b subunits that maintains 2:1:1 stoichiometry 1. In olfactory sensory neuron cilia, CNGA2 mediates cAMP-dependent Ca2+ and cation influx upon odorant stimulation, converting chemical signals to electrical depolarization 2. This Ca2+ influx activates Cl- channels for signal amplification but also triggers calmodulin-dependent rapid channel desensitization, enabling olfactory adaptation 1. CNGA2 mutations cause isolated congenital anosmia (ICA), a rare X-linked disorder with complete olfactory loss 34. Both missense and truncating variants impair channel function, with knockout mice displaying congenital anosmia alongside anxiety- and depressive-like behaviors 5. Beyond olfaction, CNGA2 expression in vascular endothelium and smooth muscle suggests roles in Ca2+ signaling in cardiovascular tissues 6. Notably, CNGA2 participates in carotid body hypoxia sensing through hydrogen sulfide-mediated odorant receptor signaling, supporting cardiorespiratory homeostasis 7. Comprehensive genetic studies identify CNGA2 as a key ICA candidate within the olfactory transduction pathway 8.

Sources cited
1
CNGA2 forms heteromeric channels with CNGA4 and CNGB1b in 2:1:1 stoichiometry; calmodulin-binding enables rapid adaptation
PMID: 41131016
2
CNGA2 conducts cAMP-activated currents and is regulated by olfactory marker protein to control olfactory response kinetics
PMID: 32703433
3
CNGA2 mutations cause X-linked isolated congenital anosmia; stop-gain mutations segregate in affected families
PMID: 28572688
4
First report of CNGA2 mutation in two brothers with congenital anosmia; supports critical role in human olfaction
PMID: 25156905
5
Cnga2 knockout mice are congenitally anosmic and exhibit increased anxiety and depressive-like behaviors
PMID: 25192635
6
CNGA2 is expressed in vascular endothelium and smooth muscle, suggesting Ca2+ influx roles beyond olfaction
PMID: 14618336
7
CNGA2 participates in carotid body hypoxia sensing through odorant receptor signaling pathways
PMID: 37406126
8
CNGA2 confirmed as essential ICA gene in olfactory transduction pathway through whole exome sequencing
PMID: 38148624
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
Leber congenital amaurosis 10Open Targets
0.06Suggestive
asthma, nasal polyps, and aspirin intoleranceOpen Targets
0.05Suggestive
Absent thumb - short stature - immunodeficiencyOpen Targets
0.04Suggestive
hypogonadotropic hypogonadismOpen Targets
0.04Suggestive
Kallmann syndromeOpen Targets
0.04Suggestive
obstructive sleep apneaOpen Targets
0.04Suggestive
Abnormality of the earOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.01Suggestive
familial isolated congenital aspleniaOpen Targets
0.01Suggestive
AnosmiaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
hypertensionOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CNGB3Protein interaction100%CALM3Protein interaction100%CALML4Protein interaction96%CALML6Protein interaction96%CALML3Protein interaction96%CALML5Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CNGA2CNGB3CALM3CALML4CALML6CALML3CALML5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q16280
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.44–0.88]
RankingsWhere CNGA2 stands among ~20K protein-coding genes
  • #15,830of 20,598
    Most Researched14
  • #7,754of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCNGA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Isolated Congenital Anosmia and CNGA2 Mutation.
PMID: 28572688
Sci Rep · 2017
1.00
2
Olfactory marker protein captures cAMP produced via Gαs-protein-coupled receptor activation.
PMID: 32703433
Biochem Biophys Res Commun · 2020
0.90
3
Anxiety- and depressive-like behaviors in olfactory deficient Cnga2 knockout mice.
PMID: 25192635
Behav Brain Res · 2014
0.80
4
Structural mechanisms of assembly, gating, and calmodulin modulation of human olfactory CNG channel.
PMID: 41131016
Nat Commun · 2025
0.70
5
Identifying candidate genes underlying isolated congenital anosmia.
PMID: 38148624
Clin Genet · 2024
0.60