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 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
3 figures from 3 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
Allele Type Localization Consequence Mutagen Supplier
la014554TgTransgenic insertionUnknownUnknownDNA
nia06Allele with one point mutationUnknownMissenseENU
sa7519Allele with one point mutationUnknownMissenseENU
sa30106Allele with one point mutationUnknownPremature StopENU
sb13Allele with one point mutationUnknownUnknownENU
tf207cunknownUnknownUnknownENU
tj19dAllele with one point mutationUnknownMissenseENU
ts29unknownUnknownUnknownENU
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Sequence Targeting Reagents
No data available
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
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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
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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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 24
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA chrnd-201 (1) Ensembl 2,019 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(actc1b-hsp70l:Tomato-chrnd)
  • Danio rerio
1Asakawa et al., 2018
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-118O21ZFIN Curated Data
EncodesESTfa01e01
EncodescDNAMGC:110469ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCHRND2
Amino acid sequence comparison (2)
Phylogenetic tree (1)
MouseChrnd1
Amino acid sequence comparison (3)
Functional complementation (1)
Phylogenetic tree (1)
Citations
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