CHRNE
Cholinergic Receptor Nicotinic Epsilon Subunit
Gene Information Card
| Symbol | CHRNE |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Epsilon Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 1145 ncbi.nlm.nih.gov/gene/1145 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q15825 |
| OMIM ID | 100725 |
| HGNC ID | 1966 |
| Aliases | CMS1A, CMS1B, CMS2A, CMS2C, FCCMS, SCCMS, AChR epsilon |
Description
The CHRNE gene encodes the epsilon subunit of the nicotinic acetylcholine receptor (nAChR), a pentameric ligand-gated ion channel expressed at the neuromuscular junction. This subunit is essential for proper receptor clustering and function in adult muscle. Mutations in CHRNE are a common cause of congenital myasthenic syndromes (CMS), often with recessive inheritance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital Myasthenic Syndrome 1A (slow-channel) | Gain-of-function mutations prolong channel open time, leading to calcium overload and endplate myopathy. | ClinVar, OMIM |
| Congenital Myasthenic Syndrome 1B (fast-channel) | Loss-of-function mutations reduce channel opening probability or conductance, causing endplate AChR deficiency. | ClinVar, OMIM |
| Congenital Myasthenic Syndrome 2A (with AChR deficiency) | Null or missense mutations impair subunit assembly or expression, reducing functional AChR number. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Cerebellum | 0.3 | Low |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 8.2 | Muscle lineage |
| SK-N-SH (neuroblastoma) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130G>A (p.Glu45Lys) | Missense | Rare | Gain-of-function; slow-channel CMS |
| c.1213C>T (p.Arg405Trp) | Missense | Rare | Loss-of-function; fast-channel CMS |
| c.1327delG (p.Ala443Profs*24) | Frameshift | Rare | Loss-of-function; AChR deficiency |
Mutation functional classification
Loss of Function (LOF)
Reduced channel opening, decreased AChR expression, or impaired subunit assembly; associated with fast-channel CMS and AChR deficiency.
Gain of Function (GOF)
Prolonged channel open time or increased affinity for acetylcholine; associated with slow-channel CMS.
Dominant Negative (DN)
Rare; some missense mutations may interfere with pentamer assembly in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation-selective channel activity | • postsynaptic membrane |
| • neuromuscular junction | • ion transport |
| • chemical synaptic transmission |
Pathways
• Nicotinic acetylcholine receptor signaling
• Neurotransmitter receptor binding and downstream transmission
Protein Summary
The epsilon subunit (CHRNE) is a component of the adult muscle nicotinic acetylcholine receptor (nAChR). It replaces the gamma subunit during development and is critical for high-conductance, fast-kinetic channel properties at the neuromuscular junction. The protein contains four transmembrane domains and an extracellular N-terminal ligand-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNE Knockout HEK293 Cell Line | EDJ-KQ50190 | Human | 1145 | Details Get a Quote |
| CHRNE Knockout HeLa Cell Line | EDJ-KQ52909 | Human | 1145 | Details Get a Quote |
| CHRNE Knockout A-549 Cell Line | EDJ-KQ61375 | Human | 1145 | Details Get a Quote |
| CHRNE Knockout HCT 116 Cell Line | EDJ-KQ69871 | Human | 1145 | Details Get a Quote |
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