HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHRNA9
cholinergic receptor nicotinic alpha 9 subunit
Chromosome 4 · 4p14
NCBI Gene: 55584Ensembl: ENSG00000174343.6HGNC: HGNC:14079UniProt: Q9UGM1
43PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneacetylcholine receptor signaling pathwayacetylcholine-gated monoatomic cation-selective channel activitypositive regulation of cytosolic calcium ion concentrationhypothyroidismmyxedemaGraves diseaseautoimmune disease
✦AI Summary

CHR4 encodes the alpha-9 subunit of nicotinic acetylcholine receptors (nAChRs), which function as pentameric, ligand-gated cation channels with high calcium permeability 1. The gene is located on chromosome 4.1-p14 and contains five exons separated by four introns 1. CHR4 forms either homopentamers or heteropentamers with CHR4, creating calcium-permeable channels that mediate synaptic transmission in the inner ear between efferent olivocochlear fibers and hair cells 1. Beyond auditory function, CHR4 is expressed in various cell types including lymphocytes, keratinocytes, and B cells 23. The receptor plays important roles in skin homeostasis, where B cell-derived acetylcholine binding to CHR4 on keratinocytes reduces proliferation and controls inflammation 3. Clinically, CHR4 has significant disease relevance in cancer, particularly triple-negative breast cancer (TNBC), where it promotes tumor proliferation, enhances stemness properties, and suppresses ferroptosis through AKT, ERK, and STAT3 pathways 4. CHR4 polymorphisms interact with smoking exposure to increase breast cancer risk 5, and high expression correlates with poor survival outcomes 6. The receptor is also upregulated in psoriasis, correlating with disease severity scores 7.

Sources cited
1
Gene location on chromosome 4p15.1-p14, structure with 5 exons and 4 introns, and role in inner ear hair cells
PMID: 12697997
2
Expression in B cells and keratinocytes, role in skin homeostasis and inflammation control
PMID: 40267137
3
Expression in various lymphocyte populations including T-cells and B-cells
PMID: 15531379
4
Role in TNBC tumor proliferation, stemness, and ferroptosis suppression via AKT/ERK/STAT3 pathways
PMID: 40563476
5
CHRNA9 polymorphisms interact with smoking to increase breast cancer risk
PMID: 25142973
6
High expression associated with poor survival in TNBC and nicotine-induced tumor malignancy
PMID: 40244072
7
Upregulation in psoriasis and correlation with disease severity scores
PMID: 39120060
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.50Moderate
myxedemaOpen Targets
0.47Moderate
Graves diseaseOpen Targets
0.40Weak
autoimmune diseaseOpen Targets
0.39Weak
TinnitusOpen Targets
0.37Weak
DNA methylationOpen Targets
0.33Weak
Hashimoto's thyroiditisOpen Targets
0.33Weak
thyroid diseaseOpen Targets
0.32Weak
VitiligoOpen Targets
0.31Weak
hyperthyroidismOpen Targets
0.31Weak
multiple sclerosisOpen Targets
0.31Weak
autoimmune thyroid diseaseOpen Targets
0.31Weak
ThyrotoxicosisOpen Targets
0.31Weak
corneal ulcerOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.26Weak
male reproductive organ cancerOpen Targets
0.22Weak
iron metabolism diseaseOpen Targets
0.16Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
NERAMEXANEPhase III
Neuronal acetylcholine receptor; alpha9/alpha10 antagonist
Alzheimer disease
NERAMEXANE MESYLATEPhase III
Neuronal acetylcholine receptor; alpha9/alpha10 antagonist
Tinnitus
Related Genes
SLURP2Protein interaction97%CHATProtein interaction93%CHRNA10Protein interaction89%CHRNA7Protein interaction84%CHRNEProtein interaction76%DSG3Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Lung
15%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CHRNA9SLURP2CHATCHRNA10CHRNA7CHRNEDSG3
PROTEIN STRUCTURE
Preparing viewer…
PDB4UXU · 1.71 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.43–0.88]
RankingsWhere CHRNA9 stands among ~20K protein-coding genes
  • #9,704of 20,598
    Most Researched43
  • #7,850of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCHRNA9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chromosome location and characterization of the human nicotinic acetylcholine receptor subunit alpha (alpha) 9 (CHRNA9) gene.
PMID: 12697997
Cytogenet Genome Res · 2002
1.00
2
B cell-derived acetylcholine mitigates skin inflammation in mice through α9 nicotinic acetylcholine receptor-mediated signaling.
PMID: 40267137
Proc Natl Acad Sci U S A · 2025
0.90
3
CHRNA9 polymorphisms and smoking exposure synergize to increase the risk of breast cancer in Taiwan.
PMID: 25142973
Carcinogenesis · 2014
0.80
4
Nicotine-driven enhancement of tumor malignancy in triple-negative breast cancer via additive regulation of CHRNA9 and IGF1R.
PMID: 40244072
J Pathol · 2025
0.70
5
Membrane protein-regulated networks across human cancers.
PMID: 31311925
Nat Commun · 2019
0.60