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

Exhibits acetylcholine-gated cation-selective channel activity. Predicted to contribute to acetylcholine binding activity and acetylcholine receptor activity. Involved in myofibril assembly. Localizes to plasma membrane. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 3A; congenital myasthenic syndrome 3B; and congenital myasthenic syndrome 3C. Is expressed in musculature system and somite. Orthologous to human CHRND (cholinergic receptor nicotinic delta subunit).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 21 figures from 8 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With chrnd Human Ortholog

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

Associated With chrnd Via Experimental Models

No data available

Gene Ontology

Protein Domains

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