Property Summary

NCBI Gene PubMed Count 26
PubMed Score 15.07
PubTator Score 17.58

Knowledge Summary

Patent (988)

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.010 2.3e-04

 GWAS Trait (1)

Protein-protein Interaction (3)

Gene RIF (15)

PMID Text
25608830 Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
25411939 Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified.
23448903 No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome.
22167768 We did not identify a clear difference in mutation spectrum of the CHRNG gene between lethal form and non-lethal forms of multiple pterygium syndromes
20734064 Observational study of gene-disease association. (HuGE Navigator)
20584212 Observational study of gene-disease association. (HuGE Navigator)
19259974 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18988640 Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients.
18625075 This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation
18625075 Observational study of gene-disease association. (HuGE Navigator)
18502212 constructed and characterized four AChR gamma extracellular domain variants
16826531 Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome.
16826520 CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate.
16435141 A good correlation was found between the expression of PAX3/7-FKHR and AChR, while MyoD1 was more sensitive but less specific.

AA Sequence

MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLTNLISLNEREE      1 - 70
ALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYW     71 - 140
LPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQH    141 - 210
RPAKMLLDPAAPAQEAGHQKVVFYLLIQRKPLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINV    211 - 280
LLAQTVFLFLVAKKVPETSQAVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRL    281 - 350
LPQLLRMHVRPLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP    351 - 420
ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAMLSLFICGTAG    421 - 490
IFLMAHYNRVPALPFPGDPRPYLPSPD                                               491 - 517
//

Text Mined References (27)

PMID Year Title
25608830 2015 Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
25416956 2014 A proteome-scale map of the human interactome network.
25411939 2015 Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
23448903 2013 Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20584212 2010 Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
19086053 2009 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.
19059502 2009 Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.
18988640 2009 PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
18625075 2008 Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.
18502212 2008 Mutant forms of the extracellular domain of the human acetylcholine receptor gamma-subunit with improved solubility and enhanced antigenicity. The importance of the Cys-loop.
16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
16435141 2006 Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8040310 1994 Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.
7695910 1995 Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor.
7688301 1993 Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.
3967651 1985 Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor.
2630182 1989 Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter.
1981051 1990 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.