Gene
chrnd
- ID
- ZDB-GENE-030131-6665
- Name
- cholinergic receptor, nicotinic, delta (muscle)
- Symbol
- chrnd Nomenclature History
- Previous Names
-
- sofa potato
- sop
- wu:fa01e01 (1)
- zgc:110469
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Enables acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within excitatory postsynaptic potential; monoatomic cation transmembrane transport; and myofibril assembly. Located in plasma membrane. Is expressed in musculature system and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 3A; congenital myasthenic syndrome 3B; and congenital myasthenic syndrome 3C. Orthologous to human CHRND (cholinergic receptor nicotinic delta subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myasthenic syndrome 3A | Alliance | ?Myasthenic syndrome, congenital, 3A, slow-channel | 616321 |
congenital myasthenic syndrome 3B | Alliance | Myasthenic syndrome, congenital, 3B, fast-channel | 616322 |
congenital myasthenic syndrome 3C | Alliance | ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | 616323 |
contractures, pterygia, and spondylocarpotarsal fusion syndrome | Alliance | Multiple pterygium syndrome, lethal type | 253290 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
Family | IPR002394 | Nicotinic acetylcholine receptor |
Family | IPR006201 | Neurotransmitter-gated ion-channel |
Homologous_superfamily | IPR036719 | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
Homologous_superfamily | IPR036734 | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
Domain Details Per Protein
Protein | Additional Resources | Length | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily | Nicotinic acetylcholine receptor |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q75XT1 | InterPro | 518 |
Interactions and Pathways
No data available
Plasmids
No data available