Gene: CHRM3

Alternate names for this Gene: EGBRS|HM3|PBS

Gene Summary: The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities.

Gene is located in Chromosome: 1

Location in Chromosome : 1q43

Description of this Gene: cholinergic receptor muscarinic 3

Type of Gene: protein-coding

rs12059546 in CHRM3 gene and Epilepsy PMID 22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

rs16838623 in CHRM3 gene and Fatty acid measurement PMID 28820441 2017 Genome-Wide Interaction Study of Omega-3 PUFAs and Other Fatty Acids on Inflammatory Biomarkers of Cardiovascular Health in the Framingham Heart Study.

rs185275068 in CHRM3 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs12036147 in CHRM3 gene and Major Depressive Disorder PMID 30219690 2019 GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.

rs12036147 in CHRM3 gene and Smoking PMID 30219690 2019 GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.

rs16838623 in CHRM3 gene and Soluble Interleukin 6 Receptor Measurement PMID 28820441 2017 Genome-Wide Interaction Study of Omega-3 PUFAs and Other Fatty Acids on Inflammatory Biomarkers of Cardiovascular Health in the Framingham Heart Study.

rs536477 in CHRM3 gene and Venous Thromboembolism PMID 23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.

rs2355237 in CHRM3 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.