CHRNG

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

CHRNG
Identifiers
Aliases	CHRNG, ACHRG, cholinergic receptor nicotinic gamma subunit
External IDs	OMIM: 100730; MGI: 87895; HomoloGene: 3810; GeneCards: CHRNG; OMA:CHRNG - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.1 Start 232,539,692 bp[1] End 232,548,115 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C5|1 44.07 cM Start 87,132,379 bp[2] End 87,140,416 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh cerebellar vermis glutes synovial joint human penis periodontal fiber skeletal muscle tissue sural nerve seminal vesicula Top expressed in lens internal carotid artery mylohyoid muscle tongue muscle erector spinae muscles tongue Psoas zygote shoulder psoas major muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function channel activity acetylcholine binding acetylcholine receptor activity ion channel activity protein binding extracellular ligand-gated ion channel activity ligand-gated ion channel activity acetylcholine-gated cation-selective channel activity transmembrane signaling receptor activity Cellular component integral component of membrane acetylcholine-gated channel complex postsynaptic membrane membrane plasma membrane synapse integral component of plasma membrane cell junction neuron projection Biological process muscle contraction response to nicotine synaptic transmission, cholinergic ion transport cation transmembrane transport neuromuscular synaptic transmission signal transduction regulation of postsynaptic membrane potential excitatory postsynaptic potential ion transmembrane transport chemical synaptic transmission regulation of membrane potential nervous system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1146 11449 Ensembl ENSG00000196811 ENSMUSG00000026253 UniProt P07510 P04760 RefSeq (mRNA) NM_005199 NM_009604 RefSeq (protein) NP_005190 n/a Location (UCSC) Chr 2: 232.54 – 232.55 Mb Chr 1: 87.13 – 87.14 Mb PubMed search [3] [4]
Wikidata
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For background information on the acetylcholine receptor (AChR), see CHRNA1 (MIM 100690). Two forms of AChR are found in mammalian skeletal muscle cells. The mature form is predominant in innervated adult muscle and the embryonic form is present in fetal and denervated muscle. Embryonic and mature AChR differ by the replacement of the gamma subunit in the pentameric glycoprotein complex by its isoform, the epsilon subunit (MIM 100725), which is specific to the mature AChR subtype. This switch is mediated by ARIA (acetylcholine receptor-inducing activity; MIM 142445).[supplied by OMIM]^[5]

Clinical significance

Mutations in CHRNG are known to cause the following conditions:^[6]

• Multiple pterygium syndrome, lethal type (LMPS);
• Multiple pterygium syndrome, Escobar variant (EVMPS).