Free for academic non-profit institutions. Other users need a Commercial license
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
CHRND (Cholinergic Receptor Nicotinic Delta Subunit) is a Protein Coding gene. Diseases associated with CHRND include Multiple Pterygium Syndrome, Lethal Type and Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNG.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005230 | extracellular ligand-gated ion channel activity | IEA | -- |
GO:0015276 | ligand-gated ion channel activity | IEA | -- |
GO:0015464 | acetylcholine receptor activity | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0005892 | acetylcholine-gated channel complex | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Postsynaptic nicotinic acetylcholine receptors | ||
2 | Transmission across Chemical Synapses |
.62
|
|
3 | Peptide ligand-binding receptors | ||
4 | Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics | ||
5 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003009 | skeletal muscle contraction | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0006936 | muscle contraction | TAS | 8872460 |
GO:0007165 | signal transduction | TAS,IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acetylcysteine | Approved, Investigational | Pharma | Antioxidant;mucolytic agent | 427 | ||
Atropine | Approved, Vet_approved | Pharma | Antagonist | MAChRs antagonist | 208 | |
Gallamine Triethiodide | Approved | Pharma | 0 | |||
Homatropine Methylbromide | Approved | Pharma | Muscarinic AChR antagonist | 0 | ||
Hyoscyamine | Approved | Pharma | 6 |
Compound | Action | Cas Number |
---|---|---|
Acetylcholine Chloride | Major transmitter at many nervous sites | 60-31-1 |
Acetylcysteine | Antioxidant;mucolytic agent | 616-91-1 |
Atropine | MAChRs antagonist | 5908-99-6 |
Benzethonium Chloride | 121-54-0 | |
Bethanechol chloride | Muscarinic receptor agonist | 590-63-6 |
Decamethonium Bromide | 541-22-0 | |
Diphemanil Methylsulfate | 62-97-5 | |
Flavoxate hydrochloride | 3717-88-2 | |
Galanthamine HBr | Acetylcholinesterase inhibitor | 1953-04-4 |
Gallamine Triethiodide | 65-29-2 | |
Hexamethonium Bromide | 55-97-0 | |
Homatropine Bromide | Muscarinic AChR antagonist | 51-56-9 |
Homatropine Methylbromide | Muscarinic AChR antagonist | 80-49-9 |
Hyoscyamine | 101-31-5 | |
Ipratropium Bromide | 22254-24-6 | |
LY2119620 | 886047-22-9 | |
Methscopolamine | Muscarinic acetylcholine receptor blocker | 155-41-9 |
Neostigmine Bromide | Cholinesterase inhibitor | 114-80-7 |
Nicotine Difartrate | 65-31-6 | |
Nitenpyram | 150824-47-8 | |
Orphenadrine Citrate | Antiparkinsonian and analgesic drug | 4682-36-4 |
Otilonium Bromide | 26095-59-0 | |
Oxybutynin | 5633-20-5 | |
Oxybutynin chloride | 1508-65-2 | |
Pancuronium dibromide | AChR antagonist | 15500-66-0 |
Paroxetine HCl | Antidepressant agents | 78246-49-8 |
Pentoxyverine Citrate | 23142-01-0 | |
Pilocarpine HCl | 54-71-7 | |
PNU-120596 | α7 nAChR modulator,positive allosteric | 501925-31-1 |
Pregnenolone | 145-13-1 | |
Rivastigmine Tartrate | 129101-54-8 | |
Rocuronium Bromide | TGF-βR I kinase inhibitor | 119302-91-9 |
Succinylcholine Chloride Dihydrate | 6101-15-1 | |
Tiotropium Bromide hydrate | Muscarinic antagonist | 139404-48-1 |
Tropicamide | Antimuscarinic drug | 1508-75-4 |
Trospium chloride | Antimuscarinic agent | 10405-02-4 |
Varenicline Tartrate | Subtype-selective agonist of α4β2 nicotinic receptors,orally active | 375815-87-5 |
Vecuronium Bromide | Nonpolarizing neuromuscular relaxant | 50700-72-6 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHRND 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHRND 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHRND 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Chrnd 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chrnd 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CHRND 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHRND 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHRND 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHRND 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chrnd 30 |
|
||
Str.12223 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1119 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chrnd 30 31 |
|
OneToOne | |
wufa01e01 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | nAcRbeta-64B 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lev-1 31 32 |
|
ManyToMany | |
unc-29 31 32 |
|
ManyToMany | |||
acr-3 31 |
|
ManyToMany | |||
acr-2 31 32 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
645129 | Likely Pathogenic: Lethal multiple pterygium syndrome | 232,531,350(+) | A/C | SPLICE_ACCEPTOR_VARIANT | |
646839 | Uncertain Significance: Lethal multiple pterygium syndrome | 232,531,661(+) | G/T | INTRON_VARIANT | |
648856 | Uncertain Significance: Lethal multiple pterygium syndrome | 232,535,238(+) | T/C | MISSENSE_VARIANT | |
650661 | Uncertain Significance: Lethal multiple pterygium syndrome | 232,526,604(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
657502 | Pathogenic: Lethal multiple pterygium syndrome | 232,528,872(+) | T/TATAC | FRAMESHIFT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2674530 | CNV | deletion | 23128226 |
esv2721631 | CNV | deletion | 23290073 |
esv3594656 | CNV | loss | 21293372 |
nsv1073020 | CNV | deletion | 25765185 |
nsv3211 | CNV | insertion | 18451855 |
nsv3212 | CNV | deletion | 18451855 |
nsv527789 | CNV | loss | 19592680 |
nsv821918 | CNV | gain | 20364138 |
nsv953202 | CNV | deletion | 24416366 |