Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.
| RefSeq Version | NM_005199.4, 61743913 |
| Length | 2187 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA. |
| Product | acetylcholine receptor subunit gamma precursor |
| Comment | Summary: The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis. |
| RefSeq | NP_005190.4 |
| CDS | 22..1575 | Exon (1) | 1..76 | Exon (2) | 1..76 | Exon (3) | 77..216 | Exon (4) | 217..261 | Exon (5) | 262..371 | Exon (6) | 372..527 | Exon (7) | 528..625 | Exon (8) | 626..826 | Exon (9) | 827..941 | Exon (10) | 942..1056 | Exon (11) | 1057..1270 | Exon (12) | 1271..1401 | Exon (13) | 1402..2187 |
| Translation | MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLT
NLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDG
VFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDL
QLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRK
PLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINVLLAQTVFLFLVAKKVPETSQ
AVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRLLPQLLRMHVR
PLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP
ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAM
LSLFICGTAGIFLMAHYNRVPALPFPGDPRPYLPSPD
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| Position | Chain | Variation | Link |
| 105 | + | c, t | dbSNP:2573202 |
| 445 | + | c, g | dbSNP:79682066 |
| 466 | + | a, g | dbSNP:2289080 |
| 498 | + | c, t | dbSNP:13391285 |
| 640 | + | c, g | dbSNP:78286008 |
| complement(735) | - | c, a | dbSNP:17838626 |
| 972 | + | a, c | dbSNP:75369104 |
| 1017 | + | a, g | dbSNP:113978875 |
| 1067 | + | , g | dbSNP:34630130 |
| complement(1096) | - | t, c | dbSNP:16829208 |
| 1121 | + | c, t | dbSNP:74691009 |
| complement(1442) | - | t, c | dbSNP:16829216 |
| 1443 | + | c, t | dbSNP:2099489 |
| 1537 | + | c, t | dbSNP:71421651 |
| 1652 | + | c, t | dbSNP:11690038 |
| 1702 | + | a, c | dbSNP:77998770 |
| 1816 | + | c, t | dbSNP:111733445 |
| 1926 | + | a, g | dbSNP:111802317 |
| 2052 | + | a, c, t | dbSNP:59295139 |
| 2071 | + | a, g | dbSNP:72991937 |
| 2085 | + | c, t | dbSNP:2853459 |
| 2143 | + | c, t | dbSNP:72991939 |
| 2145..2146 | + | , t | dbSNP:34664424 |
| 2150 | + | c, g | dbSNP:12613412 |
| 2167..2168 | + | , t | dbSNP:71398725 |
| 2167 | + | c, t | dbSNP:72991940 |
| 2168..2169 | + | , tt | dbSNP:72497674 |
| 2187 | + | , tt | dbSNP:57021172 |
| Gene Symbol | CHRNG |
| Gene Synonym | ACHRG; MGC133376 |
| Chromosome | 2 |
| Locus Map | 2q33-q34 |
| All Transcripts | NM_005199 |
| Title | A large-scale candidate gene association study of age at menarche and age at natural menopause . |
| Author | He,C., Kraft,P., Chasman,D.I., Buring,J.E., Chen,C., Hankinson,S.E., Pare,G., Chanock,S., Ridker,P.M. and Hunter,D.J. |
| Journal | Hum. Genet. 128 (5), 515-527 (2010) |
| Title | Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans . |
| Author | Saccone,N.L., Schwantes-An,T.H., Wang,J.C., Grucza,R.A., Breslau,N., Hatsukami,D., Johnson,E.O., Rice,J.P., Goate,A.M. and Bierut,L.J. |
| Journal | Genes Brain Behav. 9 (7), 741-750 (2010) |
| Title | Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment . |
| Author | Gratacos,M., Costas,J., de Cid,R., Bayes,M., Gonzalez,J.R., Baca-Garcia,E., de Diego,Y., Fernandez-Aranda,F., Fernandez-Piqueras,J., Guitart,M., Martin-Santos,R., Martorell,L., Menchon,J.M., Roca,M., Saiz-Ruiz,J., Sanjuan,J., Torrens,M., Urretavizcaya,M., Valero,J., Vilella,E., Estivill,X. and Carracedo,A. |
| Journal | Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6), 808-816 (2009) |
| Title | Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes . |
| Author | Saccone,N.L., Saccone,S.F., Hinrichs,A.L., Stitzel,J.A., Duan,W., Pergadia,M.L., Agrawal,A., Breslau,N., Grucza,R.A., Hatsukami,D., Johnson,E.O., Madden,P.A., Swan,G.E., Wang,J.C., Goate,A.M., Rice,J.P. and Bierut,L.J. |
| Journal | Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (4), 453-466 (2009) |
| Title | Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties . |
| Author | Zouridakis,M., Zisimopoulou,P., Eliopoulos,E., Poulas,K. and Tzartos,S.J. |
| Journal | Biochim. Biophys. Acta 1794 (2), 355-366 (2009) |
| Title | Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor . |
| Author | Kreienkamp,H.J., Maeda,R.K., Sine,S.M. and Taylor,P. |
| Journal | Neuron 14 (3), 635-644 (1995) |
| Title | Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits . |
| Author | Beeson,D., Brydson,M., Betty,M., Jeremiah,S., Povey,S., Vincent,A. and Newsom-Davis,J. |
| Journal | Eur. J. Biochem. 215 (2), 229-238 (1993) |
| Title | 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 . |
| Author | Schurr,E., Skamene,E., Morgan,K., Chu,M.L. and Gros,P. |
| Journal | Genomics 8 (3), 477-486 (1990) |
| Title | Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter . |
| Author | Cohen-Haguenauer,O., Barton,P.J., Buonanno,A., Cong,N.V., Masset,M., de Tand,M.F., Merlie,J. and Frezal,J. |
| Journal | Cytogenet. Cell Genet. 52 (3-4), 124-127 (1989) |
| Title | Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor . |
| Author | Shibahara,S., Kubo,T., Perski,H.J., Takahashi,H., Noda,M. and Numa,S. |
| Journal | Eur. J. Biochem. 146 (1), 15-22 (1985) |
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