CHRNG

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) Band 2q37.1 Start 232,539,692bp End 232,548,115bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C5|1 44.07 cM Start 87,132,379bp End 87,140,416bp
RNA expressionpattern 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 PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Acetylcholine receptor subunit gammais aproteinthat in humans is encoded by theCHRNGgene.

For background information on theacetylcholine receptor(AChR), seeCHRNA1(MIM 100690). Two forms of AChR are found inmammalianskeletalmuscle cells.The mature form is predominant in innervated adultmuscleand the embryonic form is present in fetal and denervated muscle. Embryonic and mature AChR differ by the replacement of the gamma subunit in the pentamericglycoproteincomplex by itsisoform,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]

Clinical significance

Mutations in CHRNG are known to cause the following conditions:

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

External links

• HumanCHRNGgenome location andCHRNGgene details page in theUCSC Genome Browser.

Further reading

• Morgan NV, Brueton LA, Cox P, et al. (2006)."Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome".Am. J. Hum. Genet.79(2): 390–5.doi:10.1086/506256.PMC1559492.PMID16826531.
• Hoffmann K, Muller JS, Stricker S, et al. (2006)."Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit".Am. J. Hum. Genet.79(2): 303–12.doi:10.1086/506257.PMC1559482.PMID16826520.
• Gallego S, Llort A, Roma J, et al. (2007). "Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay".J. Cancer Res. Clin. Oncol.132(6): 356–62.doi:10.1007/s00432-006-0083-y.PMID16435141.S2CID21561563.
• Hillier LW, Graves TA, Fulton RS, et al. (2005)."Generation and annotation of the DNA sequences of human chromosomes 2 and 4".Nature.434(7034): 724–31.Bibcode:2005Natur.434..724H.doi:10.1038/nature03466.PMID15815621.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs".Nat. Genet.36(1): 40–5.doi:10.1038/ng1285.PMID14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
• Vernet-der Garabedian B, Lacokova M, Eymard B, et al. (1994)."Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor".J. Clin. Invest.94(2): 555–9.doi:10.1172/JCI117369.PMC296130.PMID8040310.
• Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995)."Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor".Neuron.14(3): 635–44.doi:10.1016/0896-6273(95)90320-8.PMID7695910.
• Beeson D, Brydson M, Betty M, et al. (1993). "Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits".Eur. J. Biochem.215(2): 229–38.doi:10.1111/j.1432-1033.1993.tb18027.x.PMID7688301.
• Shibahara S, Kubo T, Perski HJ, et al. (1985)."Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor".Eur. J. Biochem.146(1): 15–22.doi:10.1111/j.1432-1033.1985.tb08614.x.PMID3967651.
• Cohen-Haguenauer O, Barton PJ, Buonanno A, et al. (1990). "Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter".Cytogenet. Cell Genet.52(3–4): 124–7.doi:10.1159/000132860.PMID2630182.
• Schurr E, Skamene E, Morgan K, et al. (1991). "Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q".Genomics.8(3): 477–86.doi:10.1016/0888-7543(90)90034-R.PMID1981051.

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.