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. Acts upstream of or within cholinergic synaptic transmission. Part of acetylcholine-gated channel complex. Is expressed in adaxial cell; central nervous system; musculature system; polster; and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 4A; congenital myasthenic syndrome 4B; and congenital myasthenic syndrome 4C. Orthologous to human CHRNE (cholinergic receptor nicotinic epsilon subunit).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
Domain Details Per Protein
Protein Length 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:G1FMQ0 517
UniProtKB:Q6AXL9 329
UniProtKB:A2BG85 517
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-chrne,chrng polyclonal Rabbit
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations