CHRND: Cholinergic Receptor Nicotinic Delta Subunit
Key subunit of the neuromuscular nicotinic acetylcholine receptor; mutations linked to congenital myasthenic syndromes.
Gene Information Card
| Symbol | CHRND |
|---|---|
| Full Name | cholinergic receptor nicotinic delta subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 1144 ncbi.nlm.nih.gov/gene/1144 |
| Ensembl ID | ENSG00000135902 |
| UniProt ID | Q07001 |
| OMIM ID | 100720 |
| HGNC ID | 1965 |
| Aliases | ACHRD, CMS2C, CMS2D, CMS2E, CMS2F, CMS2G, CHRNAD, nAChR delta |
Description
The CHRND gene encodes the delta subunit of the nicotinic acetylcholine receptor (nAChR), a pentameric ligand-gated ion channel expressed at the neuromuscular junction. This subunit is essential for receptor assembly, channel gating, and synaptic transmission. Mutations in CHRND cause various forms of congenital myasthenic syndrome (CMS), characterized by muscle weakness and fatigability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myasthenic syndrome 2C (CMS2C) | Loss-of-function mutations in CHRND impair nAChR assembly or function, reducing endplate currents. | ClinVar, OMIM |
| Congenital myasthenic syndrome 2D (CMS2D) | Dominant-negative or gain-of-function mutations alter channel kinetics, leading to prolonged or reduced synaptic response. | ClinVar, OMIM |
| Congenital myasthenic syndrome 2E (CMS2E) | Missense mutations affecting the delta subunit's extracellular domain disrupt receptor clustering. | ClinVar, OMIM |
| Congenital myasthenic syndrome 2F (CMS2F) | Nonsense or frameshift mutations cause complete loss of delta subunit, preventing functional receptor formation. | ClinVar, OMIM |
| Congenital myasthenic syndrome 2G (CMS2G) | Splice-site mutations lead to truncated or unstable delta subunit, reducing surface expression. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Cerebellum | 0.8 | Low |
| Cerebral cortex | 0.5 | Low |
| Heart | 0.3 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 8.2 | Muscle lineage |
| A-673 (Ewing sarcoma) | 0.4 | Low expression |
| SH-SY5Y (neuroblastoma) | 0.2 | Low expression |
| HEK 293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41Cys) | Missense | Rare | Impairs subunit assembly; associated with CMS2C |
| c.553G>A (p.Gly185Arg) | Missense | Rare | Alters channel gating; associated with CMS2D |
| c.820C>T (p.Arg274*) | Nonsense | Rare | Truncated protein; loss of function; CMS2F |
| c.1027+1G>A | Splice-site | Rare | Exon skipping; reduced functional receptor; CMS2G |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that abolish delta subunit expression or prevent receptor assembly.
Gain of Function (GOF)
Missense mutations that prolong channel open time or alter desensitization kinetics.
Dominant Negative (DN)
Missense mutations that disrupt assembly of the pentameric receptor, reducing surface expression of wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • nicotinic acetylcholine-gated receptor complex (GO:0005892) | • integral component of membrane (GO:0016021) |
| • synaptic transmission (GO:0007271) | • neuromuscular process (GO:0050905) |
Pathways
• Acetylcholine binding and channel opening (Reactome: R-HSA-629587)
• Neurotransmitter receptor binding and downstream transmission (KEGG: hsa04725)
• Nicotinic acetylcholine receptor signaling (WikiPathways: WP3942)
Protein Summary
The CHRND protein (UniProt Q07001) is a 517-amino acid integral membrane protein with four transmembrane domains (M1-M4). It forms part of the pentameric (α2βδγ or α2βδε) nicotinic acetylcholine receptor at the neuromuscular junction. The delta subunit contributes to the ligand-binding pocket and ion channel pore. Post-translational modifications include N-glycosylation and disulfide bond formation, critical for proper folding and assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRND Knockout HEK293 Cell Line | EDJ-KQ4279 | Human | 1144 | Details Get a Quote |
| CHRND Knockout HeLa Cell Line | EDJ-KQ52908 | Human | 1144 | Details Get a Quote |
| CHRND Knockout A-549 Cell Line | EDJ-KQ61374 | Human | 1144 | Details Get a Quote |
| CHRND Knockout HCT 116 Cell Line | EDJ-KQ69870 | Human | 1144 | Details Get a Quote |
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