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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 cation-selective channel activity. Acts upstream of or within 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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
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
multiple pterygium 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
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:Q75XT1 518
UniProtKB:Q5BLJ3 517
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations