Gene: MC4R

Alternate names for this Gene: BMIQ20

Gene Summary: The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.32

Description of this Gene: melanocortin 4 receptor

Type of Gene: protein-coding

rs13447324 in MC4R gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2229616 in MC4R gene and Body mass index procedure PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

rs2229616 in MC4R gene and Finding of body mass index PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

rs2229616 in MC4R gene and Hip circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs369841551 in MC4R gene and Hyperglycemia PMID 10199800 1999 Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

PMID 10592235 2000 The Protein Data Bank.

PMID 27654141 2017 Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.

PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

rs369841551 in MC4R gene and Monogenic diabetes PMID 10592235 2000 The Protein Data Bank.

PMID 10199800 1999 Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

PMID 27654141 2017 Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.

rs121913564 in MC4R gene and Obesity PMID 26179253 2015 Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

PMID 12588803 2003 Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

PMID 20631012 2010 We have studied the intracellular localization of four obesity-linked MC4R variants, P78L, R165W, I316S, and I317T, in immortalized neurons.

PMID 22463805 2012 High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

PMID 15486053 2005 Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

PMID 12970296 2003 Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

PMID 16507637 2006 Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

PMID 18801902 2009 Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

PMID 19091795 2009 Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

PMID 19301229 2009 Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.

PMID 18559663 2008 Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

PMID 20966905 2011 Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.

PMID 16274851 2006 Obesity-associated mutations in the human melanocortin-4 receptor gene.

PMID 10199800 1999 In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively.

PMID 25332687 2014 Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

PMID 10903343 2000 Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

PMID 12690102 2003 Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.

PMID 17628007 2007 Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.

PMID 15448103 2004 The second variant, detected in 10 obese subjects, predicted a previously identified arginine-to-glutamine substitution at codon 165, and the third variant, detected in one obese subject, predicted a novel glycine-to-serine substitution at codon 231.

rs2229616 in MC4R gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.