CHRND

Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.^[5]

CHRND
Identifiers
Aliases	CHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDs	OMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.1 Start 232,525,993 bp[1] End 232,536,667 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C5|1 44.07 cM Start 87,118,329 bp[2] End 87,127,792 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh testicle glutes skeletal muscle tissue tibialis anterior muscle mucosa of nose granulocyte hypothalamus blood Top expressed in secondary oocyte tongue muscle zygote embryo primary oocyte muscle of thigh esophagus lip somite skeletal muscle tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function acetylcholine binding ion channel activity extracellular ligand-gated ion channel activity ligand-gated ion channel activity acetylcholine-gated cation-selective channel activity transmembrane signaling receptor activity acetylcholine receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component integral component of membrane postsynaptic membrane membrane synapse cell junction acetylcholine-gated channel complex nucleoplasm cytosol plasma membrane neuromuscular junction integral component of postsynaptic specialization membrane integral component of plasma membrane neuron projection Biological process muscle contraction regulation of membrane potential skeletal muscle contraction response to nicotine cation transport synaptic transmission, cholinergic ion transport skeletal muscle tissue growth neuromuscular synaptic transmission neuromuscular process musculoskeletal movement signal transduction regulation of postsynaptic membrane potential excitatory postsynaptic potential cation transmembrane transport ion transmembrane transport chemical synaptic transmission nervous system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1144 11447 Ensembl ENSG00000135902 ENSMUSG00000026251 UniProt Q07001 P02716 RefSeq (mRNA) NM_000751 NM_001256657 NM_001311195 NM_001311196 NM_021600 RefSeq (protein) NP_000742 NP_001243586 NP_001298124 NP_001298125 NP_067611 Location (UCSC) Chr 2: 232.53 – 232.54 Mb Chr 1: 87.12 – 87.13 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Interactions

CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.^[6][7]

Clinical significance

Mutations in CHRND are known to cause the following conditions:^[8]

• Multiple pterygium syndrome, lethal type (LMPS);
• Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);
• Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);
• Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).

See also

• Nicotinic acetylcholine receptor