CHRNG (cholinergic receptor nicotinic gamma subunit)

2009-04-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
ACHRG

Other Information

Locus ID:

NCBI: 1146
MIM: 100730
HGNC: 1967
Ensembl: ENSG00000196811

Variants:

dbSNP: 1146
ClinVar: 1146
TCGA: ENSG00000196811
COSMIC: CHRNG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196811ENST00000389492P07510
ENSG00000196811ENST00000651502P07510

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly sodium permeable acetylcholine nicotinic receptorsREACTOMER-HSA-629587
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327

References

Pubmed IDYearTitleCitations
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
205842122010Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.58
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
190860532009Identification 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.34
168265202006Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.32
168265312006Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.32
221677682012CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.11
164351412006Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay.5
186250752008Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.2
186250752008Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.2

Citation

Dessen P

CHRNG (cholinergic receptor nicotinic gamma subunit)

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/gene/50850/chrng