CNGA2
geneOn this page
Also known as CNG2OCNC1OCNCaOCNCALPHAFLJ46312
Summary
CNGA2 (cyclic nucleotide gated channel subunit alpha 2, HGNC:2149) is a protein-coding gene on chromosome Xq28, encoding Cyclic nucleotide-gated channel alpha-2 (Q16280). Pore-forming subunit of the olfactory cyclic nucleotide-gated channel.
The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation.
Source: NCBI Gene 1260 — RefSeq curated summary.
At a glance
- Gene–disease (curated): isolated congenital anosmia (Supportive, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 96 total — 1 pathogenic
- MANE Select transcript:
NM_005140
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2149 |
| Approved symbol | CNGA2 |
| Name | cyclic nucleotide gated channel subunit alpha 2 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312 |
| Ensembl gene | ENSG00000183862 |
| Ensembl biotype | protein_coding |
| OMIM | 300338 |
| Entrez | 1260 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000329903
RefSeq mRNA: 1 — MANE Select: NM_005140
NM_005140
CCDS: CCDS14701
Canonical transcript exons
ENST00000329903 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001317113 | 151743093 | 151745564 |
| ENSE00001366348 | 151738787 | 151738879 |
| ENSE00001374857 | 151740794 | 151740901 |
| ENSE00001376447 | 151742536 | 151742642 |
| ENSE00001381209 | 151739562 | 151739732 |
| ENSE00001452431 | 151738458 | 151738593 |
| ENSE00003929921 | 151734746 | 151734943 |
Expression profiles
Bgee: expression breadth tissue_specific, 2 present calls, max score 37.20.
Top tissues by expression
130 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.35 | gold quality |
| urinary bladder | UBERON:0001255 | 28.42 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| liver | UBERON:0002107 | 28.04 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 27.32 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| leukocyte | CL:0000738 | 26.95 | gold quality |
| monocyte | CL:0000576 | 26.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| blood | UBERON:0000178 | 26.25 | gold quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| placenta | UBERON:0001987 | 25.81 | gold quality |
| muscle of leg | UBERON:0001383 | 25.59 | gold quality |
| endometrium | UBERON:0001295 | 25.05 | gold quality |
| calcaneal tendon | UBERON:0003701 | 24.76 | gold quality |
| primary visual cortex | UBERON:0002436 | 24.61 | gold quality |
| pancreas | UBERON:0001264 | 24.42 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.46 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EBF1
miRNA regulators (miRDB)
51 targeting CNGA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-4796-5P | 99.34 | 70.06 | 810 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-154-5P | 98.92 | 66.65 | 733 |
Literature-anchored findings (GeneRIF, showing 3)
- The results showed that it is predominantly the charge of the E342 residue in the P-loop, rather than the pore helix dipoles, which controls the cation-anion selectivity of the CNGA2 channel. (PMID:16533895)
- Identification of a novel X-linked stop mutation in CNGA2 (c.634C>T, p.R212*) in two brothers with isolated congenital anosmia. (PMID:25156905)
- The studies findings provides strong support for role of CNGA2 gene with pathogenicity of isolated congenital anosmia in humans. Together, these results indicate that mutations in key olfactory signaling pathway genes are responsible for human disease. (PMID:28572688)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnga2b | ENSDARG00000100436 |
| danio_rerio | cnga2a | ENSDARG00000102968 |
| mus_musculus | Cnga2 | ENSMUSG00000005864 |
| rattus_norvegicus | Cnga2 | ENSRNOG00000030119 |
| drosophila_melanogaster | CngA | FBGN0261612 |
| caenorhabditis_elegans | WBGENE00000487 | |
| caenorhabditis_elegans | WBGENE00006526 | |
| caenorhabditis_elegans | WBGENE00022295 |
Paralogs (17): KCNH2 (ENSG00000055118), CNGB1 (ENSG00000070729), KCNH4 (ENSG00000089558), HCN2 (ENSG00000099822), CNGA4 (ENSG00000132259), KCNH3 (ENSG00000135519), HCN4 (ENSG00000138622), KCNH5 (ENSG00000140015), KCNH1 (ENSG00000143473), HCN3 (ENSG00000143630), CNGA3 (ENSG00000144191), HCN1 (ENSG00000164588), CNGB3 (ENSG00000170289), KCNH6 (ENSG00000173826), KCNH8 (ENSG00000183960), KCNH7 (ENSG00000184611), CNGA1 (ENSG00000198515)
Protein
Protein identifiers
Cyclic nucleotide-gated channel alpha-2 — Q16280 (reviewed: Q16280)
Alternative names: Olfactory cyclic nucleotide-gated channel subunit 1
All UniProt accessions (1): Q16280
UniProt curated annotations — full annotation on UniProt →
Function. Pore-forming subunit of the olfactory cyclic nucleotide-gated channel. Operates in the cilia of olfactory sensory neurons where chemical stimulation of the odorant is converted to an electrical signal. Mediates odorant-induced cAMP-dependent Ca(2+) influx triggering neuron depolarization. The rise of intracellular Ca(2+) levels potentiates the olfactory response by activating Ca(2+)-dependent Cl(-) channels, but it also serves as a negative feedback signal to desensitize the channel for rapid adaptation to odorants. Conducts cAMP- and cGMP-gated ion currents, with permeability for monovalent and divalent cations.
Subunit / interactions. The olfactory cyclic nucleotide-gated channel is an heterotetramer composed of CNGA2, CNGA4 and CNGB1b subunits with 2:1:1 stoichiometry.
Subcellular location. Cell projection. Cilium membrane.
Domain organisation. The C-terminal coiled-coil domain mediates trimerization of CNGA subunits.
Similarity. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA2 subfamily.
RefSeq proteins (1): NP_005131* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000595 | cNMP-bd_dom | Domain |
| IPR005821 | Ion_trans_dom | Domain |
| IPR014710 | RmlC-like_jellyroll | Homologous_superfamily |
| IPR018488 | cNMP-bd_CS | Conserved_site |
| IPR018490 | cNMP-bd_dom_sf | Homologous_superfamily |
| IPR032406 | CLZ_dom | Domain |
| IPR050866 | CNG_cation_channel | Family |
Pfam: PF00027, PF00520, PF16526
Catalyzed reactions (Rhea), 7 shown:
- NH4(+)(in) = NH4(+)(out) (RHEA:28747)
- K(+)(in) = K(+)(out) (RHEA:29463)
- Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
- Na(+)(in) = Na(+)(out) (RHEA:34963)
- Rb(+)(in) = Rb(+)(out) (RHEA:78547)
- Li(+)(in) = Li(+)(out) (RHEA:78551)
- Cs(+)(in) = Cs(+)(out) (RHEA:78555)
UniProt features (37 total): topological domain 7, transmembrane region 7, region of interest 6, binding site 6, sequence variant 5, compositionally biased region 2, site 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9UPG | ELECTRON MICROSCOPY | 2.87 |
| 9UPF | ELECTRON MICROSCOPY | 3.59 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16280-F1 | 78.41 | 0.46 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 364 (central gate); 368 (central gate)
Ligand- & substrate-binding residues (6): 520; 523; 536; 536; 537; 537
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-381753 | Olfactory Signaling Pathway |
| R-HSA-5620916 | VxPx cargo-targeting to cilium |
MSigDB gene sets: 96 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_MONOATOMIC_CATION_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOCC_GOLGI_ASSOCIATED_VESICLE, GOBP_SENSORY_PERCEPTION, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_SODIUM_ION_TRANSPORT, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_GOLGI_ASSOCIATED_VESICLE_MEMBRANE, GOCC_CATION_CHANNEL_COMPLEX, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_7, GOCC_TRANSPORTER_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX
GO Biological Process (10): potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), calcium ion transport (GO:0006816), sensory perception of chemical stimulus (GO:0007606), sensory perception of smell (GO:0007608), monoatomic cation transmembrane transport (GO:0098655), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085), calcium ion transmembrane transport (GO:0070588)
GO Molecular Function (9): intracellularly cAMP-activated cation channel activity (GO:0005222), intracellularly cGMP-activated cation channel activity (GO:0005223), calcium channel activity (GO:0005262), calmodulin binding (GO:0005516), cAMP binding (GO:0030552), cGMP binding (GO:0030553), nucleotide binding (GO:0000166), monoatomic ion channel activity (GO:0005216), intracellularly cyclic nucleotide-activated monoatomic cation channel activity (GO:0005221)
GO Cellular Component (7): plasma membrane (GO:0005886), intracellular cyclic nucleotide activated cation channel complex (GO:0017071), Golgi-associated vesicle membrane (GO:0030660), ciliary membrane (GO:0060170), non-motile cilium membrane (GO:0098804), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Sensory Perception | 1 |
| Cargo trafficking to the periciliary membrane | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metal ion transport | 3 |
| transport | 2 |
| intracellularly cyclic nucleotide-activated monoatomic cation channel activity | 2 |
| cyclic nucleotide binding | 2 |
| anion binding | 2 |
| bounding membrane of organelle | 2 |
| cellular anatomical structure | 2 |
| sensory perception | 1 |
| sensory perception of chemical stimulus | 1 |
| monoatomic cation transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| cellular process | 1 |
| calcium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| monoatomic cation channel activity | 1 |
| calcium ion transmembrane transporter activity | 1 |
| protein binding | 1 |
| adenyl ribonucleotide binding | 1 |
| guanyl ribonucleotide binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| intracellularly ligand-gated monoatomic ion channel activity | 1 |
| cyclic nucleotide-activated monoatomic ion channel activity | 1 |
| ligand-gated monoatomic cation channel activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cation channel complex | 1 |
| Golgi-associated vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
| cilium | 1 |
| cell projection membrane | 1 |
| ciliary membrane | 1 |
| non-motile cilium | 1 |
Protein interactions and networks
STRING
1046 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNGA2 | CNGB1 | Q14028 | 987 |
| CNGA2 | CNGA4 | Q8IV77 | 982 |
| CNGA2 | ADCY3 | O60266 | 885 |
| CNGA2 | CNGA3 | Q16281 | 784 |
| CNGA2 | OMP | P47874 | 774 |
| CNGA2 | ANO2 | Q9NQ90 | 764 |
| CNGA2 | BEST2 | Q8NFU1 | 721 |
| CNGA2 | GNAL | P38405 | 696 |
| CNGA2 | RTP1 | P59025 | 674 |
| CNGA2 | RTP2 | Q5QGT7 | 644 |
| CNGA2 | ADCY8 | P40145 | 606 |
| CNGA2 | CALM1 | P02593 | 606 |
| CNGA2 | CALML6 | Q8TD86 | 606 |
| CNGA2 | CALML3 | P27482 | 600 |
| CNGA2 | CALML4 | Q96GE6 | 600 |
| CNGA2 | CALML5 | Q9NZT1 | 600 |
IntAct
0 interactions, top by confidence:
BioGRID (1): CNGA2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0M3R8G1, A0A0M4FLW6, A9YWR6, B8ALI0, B8BDK8, B9FMX4, D3GE74, D3ZCM3, D4AYW0, O18866, O18867, O80946, P45843, P45844, P93025, Q00195, Q03041, Q03720, Q08460, Q12791, Q16280, Q28204, Q28718, Q5W274, Q62398, Q62976, Q64343, Q7XA72, Q84K47, Q8GU83, Q8H8V7, Q8RWI9, Q8RXN0, Q90ZC7, Q91WA9, Q93YS4, Q96290, Q9BG98, Q9C8J8, Q9C8K2
Diamond homologs: A0A8I5ZN27, A5K0N4, E1AZ71, P29973, P29974, P36600, P55934, Q00194, Q00195, Q03041, Q03611, Q14028, Q16280, Q16281, Q24278, Q28181, Q28279, Q28718, Q29441, Q2K5E1, Q3UW12, Q62398, Q62927, Q64359, Q8I719, Q8IV77, Q8MJD7, Q8TF77, Q90805, Q90980, Q9ER33, Q9JJZ8, Q9JJZ9, Q9NQW8, W7JX98, Q6BZG7, P49605, Q9LD40, Q03042, A0A509AKL0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 8 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 147587 | GRCh38/hg38 Xq28(chrX:151159662-152145800)x2 | Pathogenic |
SpliceAI
604 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:151738590:GCAG:G | donor_gain | 1.0000 |
| X:151738591:CAGG:C | donor_loss | 1.0000 |
| X:151738592:AGG:A | donor_loss | 1.0000 |
| X:151738594:GT:G | donor_loss | 1.0000 |
| X:151738785:A:AG | acceptor_gain | 1.0000 |
| X:151738786:G:GG | acceptor_gain | 1.0000 |
| X:151738861:G:T | donor_gain | 1.0000 |
| X:151738878:AGG:A | donor_loss | 1.0000 |
| X:151738881:T:A | donor_loss | 1.0000 |
| X:151739561:GGATA:G | acceptor_gain | 1.0000 |
| X:151739686:G:GT | donor_gain | 1.0000 |
| X:151739710:G:GT | donor_gain | 1.0000 |
| X:151739719:G:GT | donor_gain | 1.0000 |
| X:151739733:G:GG | donor_gain | 1.0000 |
| X:151739764:GGCTT:G | donor_gain | 1.0000 |
| X:151739765:GCTT:G | donor_gain | 1.0000 |
| X:151739782:G:GT | donor_gain | 1.0000 |
| X:151739782:G:T | donor_gain | 1.0000 |
| X:151742534:A:AG | acceptor_gain | 1.0000 |
| X:151742535:G:GG | acceptor_gain | 1.0000 |
| X:151742535:GA:G | acceptor_gain | 1.0000 |
| X:151743089:CTA:C | acceptor_loss | 1.0000 |
| X:151743090:TAGGT:T | acceptor_loss | 1.0000 |
| X:151743091:A:AC | acceptor_loss | 1.0000 |
| X:151743091:A:AG | acceptor_gain | 1.0000 |
| X:151743092:G:GG | acceptor_gain | 1.0000 |
| X:151738594:G:GG | donor_gain | 0.9900 |
| X:151738782:T:TA | acceptor_gain | 0.9900 |
| X:151738783:GCAG:G | acceptor_loss | 0.9900 |
| X:151738785:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
4398 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:151743501:T:C | L333P | 1.000 |
| X:151743519:G:A | G339E | 1.000 |
| X:151743593:T:C | F364L | 1.000 |
| X:151743595:T:A | F364L | 1.000 |
| X:151743595:T:G | F364L | 1.000 |
| X:151743336:T:C | L278P | 0.999 |
| X:151743422:T:A | W307R | 0.999 |
| X:151743422:T:C | W307R | 0.999 |
| X:151743424:G:C | W307C | 0.999 |
| X:151743424:G:T | W307C | 0.999 |
| X:151743484:C:G | C327W | 0.999 |
| X:151743495:C:T | S331F | 0.999 |
| X:151743507:T:A | L335H | 0.999 |
| X:151743507:T:C | L335P | 0.999 |
| X:151743518:G:A | G339R | 0.999 |
| X:151743518:G:C | G339R | 0.999 |
| X:151743518:G:T | G339W | 0.999 |
| X:151743519:G:T | G339V | 0.999 |
| X:151743534:C:A | P344H | 0.999 |
| X:151743581:G:C | G360R | 0.999 |
| X:151743582:G:A | G360D | 0.999 |
| X:151743588:T:A | L362H | 0.999 |
| X:151743588:T:C | L362P | 0.999 |
| X:151743593:T:A | F364I | 0.999 |
| X:151743594:T:C | F364S | 0.999 |
| X:151743594:T:G | F364C | 0.999 |
| X:151743597:C:A | A365D | 0.999 |
| X:151743608:G:A | G369R | 0.999 |
| X:151743608:G:C | G369R | 0.999 |
| X:151743609:G:A | G369E | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000433504 (X:151744780 G>A), RS1000689081 (X:151738887 C>T), RS1001228131 (X:151744879 C>G,T), RS1001228808 (X:151739223 A>T), RS1001316632 (X:151745397 A>C,T), RS1001523912 (X:151739282 C>G,T), RS1001667184 (X:151735961 C>T), RS1001739712 (X:151744959 G>T), RS1001817152 (X:151736360 G>T), RS1002721965 (X:151735849 C>G,T), RS1004067165 (X:151733114 T>C), RS1004130740 (X:151733966 C>A,G,T), RS1005168344 (X:151738072 A>G), RS1005395192 (X:151733821 C>T), RS1005853757 (X:151740999 C>G,T)
Disease associations
OMIM: gene MIM:300338 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| isolated congenital anosmia | Supportive | Autosomal dominant |
| anosmia | Limited | X-linked |
Mondo (3): congenital portosystemic shunt (MONDO:0018811), anosmia (MONDO:0010528), isolated congenital anosmia (MONDO:0007137)
Orphanet (1): Congenital portosystemic shunt (Orphanet:480531)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000857 | Olfaction Disorders | C10.597.751.600; C23.888.592.763.550 |
| C535983 | Congenital anosmia (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: vgic — Cyclic nucleotide-regulated channels (CNG)
Most potent curated ligand interactions (7 total), top 7:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| calmodulin | Antagonist | 8.5 | pIC50 |
| pseudechetoxin | Antagonist | 8.3 | pKi |
| cyclic GMP | Agonist | 5.76 | pEC50 |
| dequalinium | Antagonist | 5.6 | pIC50 |
| all-trans-retinal | Antagonist | 4.57 | pIC50 |
| cyclic AMP | Agonist | 4.34 | pEC50 |
| L-(cis)-diltiazem | Antagonist | 2.12 | pKi |
CTD chemical–gene interactions
4 total (human), top 4 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| geraniol | increases reaction, increases secretion | 1 |
| denatonium | decreases reaction, increases secretion | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
Clinical trials (associated diseases)
57 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04528329 | PHASE4 | UNKNOWN | Anosmia and / or Ageusia and Early Corticosteroid Use |
| NCT04797936 | PHASE4 | COMPLETED | BNO 1030 Extract (Imupret) in the Treatment of Mild Forms of COVID-19 |
| NCT04853836 | PHASE4 | COMPLETED | Olfactory Disfunction and Co-ultraPEALut |
| NCT03680911 | PHASE3 | TERMINATED | NAC for Head Trauma-induced Anosmia |
| NCT04361474 | PHASE3 | COMPLETED | Trial Evaluating the Efficacy of Local Budesonide Therapy in the Management of Hyposmia in COVID-19 Patients Without Signs of Severity |
| NCT04484493 | PHASE3 | COMPLETED | Corticosteroid Nasal Spray in COVID-19 Anosmia |
| NCT05461365 | PHASE3 | COMPLETED | Intranasal Insulin for COVID-19-related Smell Loss |
| NCT07151703 | PHASE3 | NOT_YET_RECRUITING | Topical Versus Injection PRP for Olfactory Dysfunction |
| NCT03990766 | PHASE2 | COMPLETED | Smell Changes & Efficacy of Nasal Theophylline |
| NCT04422275 | PHASE2 | WITHDRAWN | Coronavirus Smell Therapy for Anosmia Recovery |
| NCT04495816 | PHASE2 | COMPLETED | COVID-19 Anosmia Study |
| NCT04657809 | PHASE2 | COMPLETED | Clinical Assessment of Insulin Fast Dissolving Film in Treatment of Post Infection Anosmia |
| NCT04715932 | PHASE2 | COMPLETED | Study of Hesperidin Therapy on COVID-19 Symptoms (HESPERIDIN) |
| NCT04789499 | PHASE2 | COMPLETED | Smell in Covid-19 and Efficacy of Nasal Theophylline |
| NCT05184192 | PHASE2 | COMPLETED | Efficacy of Gabapentin for Post-Covid-19 Olfactory Dysfunction |
| NCT06204432 | PHASE2 | ACTIVE_NOT_RECRUITING | Sodium Citrate in Smell Retraining for People With Post-COVID-19 Olfactory Dysfunction |
| NCT06498687 | PHASE1 | WITHDRAWN | Theophylline Nasal Spray for PD-Related Hyposmia and Anosmia |
| NCT04951362 | PHASE2/PHASE3 | UNKNOWN | Role of Ivermectin Nanosuspension as Nasal Spray in Treatment of Persistant Post covid19 Anosmia |
| NCT05226546 | PHASE2/PHASE3 | COMPLETED | Effectiveness and Safety of Platelet Rich Plasma (PRP) on Persistent Olfactory Dysfunction Related to COVID-19 |
| NCT04964414 | PHASE1/PHASE2 | TERMINATED | Treatment of Pediatric Patients That Lost Sense of Smell Due to COVID-19 |
| NCT05445921 | PHASE1/PHASE2 | COMPLETED | Stellate Ganglion Block for COVID-19-Induced Olfactory Dysfunction |
| NCT02481609 | EARLY_PHASE1 | COMPLETED | NAC Trial for Anosmia |
| NCT05395845 | EARLY_PHASE1 | UNKNOWN | Value of Platelet-Rich Plasma in Post Severe Acute Respiratory Syndrome Coronavirus 2 |
| NCT02179554 | Not specified | WITHDRAWN | Does Cardiopulmonary Bypass Change Olfaction? |
| NCT04377815 | Not specified | COMPLETED | Finding Out if COVID-19 Infection Can be pREdicted by ChAnges in Smell and/or Taste |
| NCT04384042 | Not specified | UNKNOWN | Malaysian COVID-19 Anosmia Study (Phase 2) - A Nationwide Multicentre Case-Control Study |
| NCT04388618 | Not specified | COMPLETED | Investigating Anosmia and Ageusia in COVID-19 Adult Patients in Saudi Arabia |
| NCT04390165 | Not specified | COMPLETED | Malaysian COVID-19 Anosmia Study (Phase 1) - A Nationwide Multicentre Cross-Sectional Study |
| NCT04408391 | Not specified | WITHDRAWN | Brain MRI Imaging in Patients With SARS-Cov2 (COVID-19) Infection With or Without Anosmia |
| NCT04466982 | Not specified | COMPLETED | Assessment of Olfactory Dysfunction in SARS CoV-2 (COVID-19) Infection |
| NCT04473157 | Not specified | COMPLETED | COVID-19 in Patients With Anosmia in Egypt |
| NCT04524754 | Not specified | UNKNOWN | Prevalence and Outcomes of Olfactory and Gustatory Dysfunctions in Patients With COVID-19 |
| NCT04705805 | Not specified | COMPLETED | Self-assessment of Olfactory Disorders for French Speaking Patients |
| NCT04710394 | Not specified | COMPLETED | Visual-OLfactory Training in Participants With COVID-19 Resultant Loss of Smell |
| NCT04764981 | Not specified | UNKNOWN | Olfactory Training for Olfactory Dysfunction After Coronavirus Disease - 19 (COVID-19) |
| NCT04957563 | Not specified | COMPLETED | Clinical Utility of Olfactory Rehabilitation: Treatment for Pacients With Neurosensorial Anosmia |
| NCT05040659 | Not specified | ACTIVE_NOT_RECRUITING | Longitudinal At Home Smell Testing to Detect Infection by SARS-CoV-2 |
| NCT05061329 | Not specified | RECRUITING | The Nasal Microbiome and Its Importance in Disease |
| NCT05152030 | Not specified | COMPLETED | The Clinical Applicability of the ‘TIB’ Olfactory Test Device |
| NCT05246059 | Not specified | COMPLETED | Anosmia and Covid-19 |
Related Atlas pages
- Associated diseases: anosmia, isolated congenital anosmia
- Targeted by drugs: Dequalinium
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anosmia, congenital portosystemic shunt, isolated congenital anosmia