CHRNA10
Cholinergic Receptor Nicotinic Alpha 10 Subunit
Gene Information Card
| Symbol | CHRNA10 |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Alpha 10 Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 89853 ncbi.nlm.nih.gov/gene/89853 |
| Ensembl ID | ENSG00000188153 |
| UniProt ID | Q9GZZ6 |
| OMIM ID | 606372 |
| HGNC ID | 13801 |
| Aliases | NACHRA10, alpha10 |
Description
CHRNA10 encodes the alpha 10 subunit of the nicotinic acetylcholine receptor (nAChR), a pentameric ligand-gated ion channel. The alpha 10 subunit typically co-assembles with alpha 9 to form a functional receptor that is activated by acetylcholine and mediates calcium influx. This receptor is predominantly expressed in cochlear hair cells and is essential for auditory function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing loss, autosomal dominant, 88 | Missense mutations in CHRNA10 disrupt alpha9:alpha10 nAChR function, impairing efferent innervation of cochlear hair cells | ClinVar, OMIM |
| Hearing loss, autosomal recessive, 165 | Loss-of-function variants in CHRNA10 abolish receptor activity, leading to congenital hearing impairment | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High |
| Brain | Not available | Low |
| Lung | Not available | Low |
| Testis | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used for heterologous expression studies |
| Hair cell lines | Not available | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442G>A (p.Gly148Arg) | Missense | Rare | Dominant-negative effect on channel function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that abolish alpha10 subunit expression or assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants (e.g., p.Gly148Arg) that disrupt channel gating and co-assembly with alpha9.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848) | • extracellular ligand-gated monoatomic ion channel activity (GO:0005230) |
| • plasma membrane (GO:0005886) | • synapse (GO:0045202) |
| • response to acetylcholine (GO:0014059) |
Pathways
• Nicotinic acetylcholine receptor signaling pathway (Reactome: R-HSA-622327)
• Transmission across chemical synapses (Reactome: R-HSA-112315)
Protein Summary
The alpha 10 subunit (UniProt Q9GZZ6) is a 450-amino acid protein with four transmembrane domains, a large extracellular N-terminal ligand-binding domain, and a cytoplasmic loop. It forms functional heteropentameric channels with alpha 9 subunits, which are permeable to calcium and sodium. The receptor is critical for cholinergic efferent modulation of cochlear hair cells, protecting against acoustic injury and regulating auditory sensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNA10 Knockout HEK293 Cell Line | EDJ-KQ12917 | Human | 57053 | Details Get a Quote |
| CHRNA10 Knockout HCT 116 Cell Line | EDJ-KQ42119 | Human | 57053 | Details Get a Quote |
| CHRNA10 Knockout HeLa Cell Line | EDJ-KQ42120 | Human | 57053 | Details Get a Quote |
| CHRNA10 Knockout A-549 Cell Line | EDJ-KQ65298 | Human | 57053 | Details Get a Quote |
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