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 0.000

 GWAS Trait (1)

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
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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.
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