Gene

chrne

ID

ZDB-GENE-040808-32

Name

cholinergic receptor, nicotinic, epsilon

Symbol

chrne Nomenclature History

Previous Names

AChR epsilon (1)
im:7154697
zgc:101010

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Contributes to acetylcholine receptor activity. Involved in cholinergic synaptic transmission. Localizes to acetylcholine-gated channel complex. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 4A; congenital myasthenic syndrome 4B; and congenital myasthenic syndrome 4C. Is expressed in adaxial cell; central nervous system; musculature system; polster; and somite. Orthologous to human CHRNE (cholinergic receptor nicotinic epsilon subunit).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7154697 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With chrne Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
congenital myasthenic syndrome 4A	Alliance	Myasthenic syndrome, congenital, 4A, slow-channel	605809
congenital myasthenic syndrome 4B	Alliance	Myasthenic syndrome, congenital, 4B, fast-channel	616324
congenital myasthenic syndrome 4C	Alliance	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	608931

Associated With chrne 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