CHRNA7 Gene: Nicotinic Acetylcholine Receptor Alpha 7 Subunit
A key player in neuropsychiatric disorders, inflammation, and cancer
Gene Information Card
| Symbol | CHRNA7 |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Alpha 7 Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 1139 ncbi.nlm.nih.gov/gene/1139 |
| Ensembl ID | ENSG00000175344 |
| UniProt ID | P36544 |
| OMIM ID | 118511 |
| HGNC ID | 1959 |
| Aliases | NACHRA7, CHRNA7-2, NARAD |
Description
The CHRNA7 gene encodes the alpha-7 subunit of the neuronal nicotinic acetylcholine receptor (nAChR). This receptor is a homopentameric ligand-gated ion channel that is highly permeable to calcium. It is expressed in the brain, immune cells, and various peripheral tissues. CHRNA7 plays critical roles in neurotransmission, neuroprotection, inflammation regulation, and cognitive function. Alterations in CHRNA7 are associated with neuropsychiatric disorders, epilepsy, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Reduced CHRNA7 expression or function leads to impaired cholinergic signaling and sensory gating deficits, contributing to schizophrenia symptoms. | Genetic association studies, post-mortem brain analyses, and animal models (OMIM, NCBI). |
| Epilepsy | Copy number variations (deletions) at 15q13.3 encompassing CHRNA7 are associated with idiopathic generalized epilepsy, likely due to haploinsufficiency. | ClinVar, OMIM, multiple case-control studies. |
| Autism Spectrum Disorder | CHRNA7 deletions or duplications have been found in some ASD cases, affecting synaptic function and neurodevelopment. | ClinVar, OMIM, case reports. |
| Alzheimer's Disease | CHRNA7 expression is altered in AD brains; the receptor interacts with amyloid-beta, contributing to neuroinflammation and cognitive decline. | Research articles, OMIM. |
| Lung Cancer | CHRNA7 is overexpressed in lung cancer cells; nicotine binding promotes cell proliferation and survival via calcium signaling and anti-apoptotic pathways. | COSMIC, research articles. |
| Inflammatory Disorders | CHRNA7 mediates the cholinergic anti-inflammatory pathway; reduced function exacerbates inflammation in conditions like sepsis and rheumatoid arthritis. | Research articles, UniProt. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | High |
| Adrenal Gland | 4.5 | Medium |
| Lung | 3.1 | Medium |
| Spleen | 2.0 | Low |
| Liver | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | High expression; used for neuronal studies. |
| A549 (lung carcinoma) | 6.3 | Moderate expression; relevant for lung cancer research. |
| Jurkat (T-cell leukemia) | 2.1 | Low expression; immune cell line. |
| HepG2 (hepatocellular carcinoma) | 0.5 | Very low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| 15q13.3 deletion (including CHRNA7) | Copy number variant | ~0.3% in general population; higher in epilepsy/SCZ | Haploinsufficiency; loss of receptor function. |
| c.497C>T (p.Thr166Met) | Missense | Rare | Potential loss of function; associated with epilepsy. |
| c.1045G>A (p.Val349Ile) | Missense | Rare | Uncertain significance; possibly affects receptor trafficking. |
| c.1-?_*?_del (whole gene deletion) | Gross deletion | Rare | Complete loss of one allele; severe neurodevelopmental phenotypes. |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic CHRNA7 mutations are loss-of-function, including deletions and missense variants that reduce receptor expression, ligand binding, or ion channel activity. This leads to impaired cholinergic signaling and contributes to neuropsychiatric and epileptic phenotypes.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well-documented. Some variants may increase receptor activity, potentially leading to excitotoxicity, but evidence is limited.
Dominant Negative (DN)
Certain missense mutations may exert dominant-negative effects by co-assembling with wild-type subunits and impairing receptor function, though specific examples are not well-characterized.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine receptor activity | • ligand-gated ion channel activity |
| • calcium ion binding | • ion channel activity |
| • plasma membrane | • synapse |
| • neuronal cell body | • response to nicotine |
| • chemical synaptic transmission | • calcium ion transport |
| • inflammatory response | • neurogenesis |
Pathways
• Cholinergic synapse
• Neuroactive ligand-receptor interaction
• Calcium signaling pathway
• Cholinergic anti-inflammatory pathway
Protein Summary
The CHRNA7 protein is a 502-amino acid subunit that forms homopentameric nicotinic acetylcholine receptors. Each subunit has an extracellular N-terminal domain that binds acetylcholine, four transmembrane domains (M1-M4), and a large intracellular loop between M3 and M4. The receptor is highly permeable to calcium and is involved in fast synaptic transmission and modulation of neurotransmitter release. In the brain, it is expressed in the hippocampus, cortex, and basal ganglia, where it regulates cognitive functions. In immune cells, it mediates the anti-inflammatory effects of vagus nerve stimulation. The protein is also implicated in cancer cell proliferation and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNA7 Knockout HEK293 Cell Line | EDJ-KQ1104 | Human | 1139 | Details Get a Quote |
| CHRNA7 Knockout HCT 116 Cell Line | EDJ-KQ18224 | Human | 1139 | Details Get a Quote |
| CHRNA7 Knockout A-549 Cell Line | EDJ-KQ20284 | Human | 1139 | Details Get a Quote |
| CHRNA7 Knockout HeLa Cell Line | EDJ-KQ52904 | Human | 1139 | Details Get a Quote |
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