Version 5.4
Homo sapiens Gene: CHRND
Summary
InnateDB Gene IDBG-83273.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHRND
Gene Name cholinergic receptor, nicotinic, delta (muscle)
Synonyms ACHRD; CMS2A; FCCMS; SCCMS
Species Homo sapiens
Ensembl Gene ENSG00000135902
Encoded Proteins
IDBP-83275
cholinergic receptor, nicotinic, delta
IDBP-389302
cholinergic receptor, nicotinic, delta
IDBP-389303
cholinergic receptor, nicotinic, delta
IDBP-389305
cholinergic receptor, nicotinic, delta
IDBP-389306
cholinergic receptor, nicotinic, delta
IDBP-598711
cholinergic receptor, nicotinic, delta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:232525993-232536667
Strand Forward strand
Band q37.1
Transcripts
ENST00000258385 ENSP00000258385
ENST00000449596 ENSP00000404950
ENST00000441621 ENSP00000408819
ENST00000412233 ENSP00000398143
ENST00000446616 ENSP00000410801
ENST00000543200 ENSP00000438380
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004889 acetylcholine-activated cation-selective channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005515 protein binding
GO:0015276 ligand-gated ion channel activity
GO:0042166 acetylcholine binding
Biological Process
GO:0003009 skeletal muscle contraction
GO:0006810 transport
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006936 muscle contraction
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0034220 ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0048630 skeletal muscle tissue growth
GO:0050881 musculoskeletal movement
GO:0050905 neuromuscular process
Cellular Component
GO:0005886 plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026251
View Gene Order
ENSBTAG00000011390
Not yet available
Pathways
NETPATH
REACTOME
REACT_13685
Neuronal System pathway
REACT_22149
Postsynaptic nicotinic acetylcholine receptors pathway
REACT_22223
Highly sodium permeable acetylcholine nicotinic receptors pathway
REACT_22126
Activation of Nicotinic Acetylcholine Receptors pathway
REACT_22336
Presynaptic nicotinic acetylcholine receptors pathway
REACT_13477
Transmission across Chemical Synapses pathway
REACT_15370
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
REACT_15461
Acetylcholine Binding And Downstream Events pathway
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000751 NM_001256657
HUGO
OMIM
CCDS CCDS2494 CCDS58754
HPRD 01516
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca