MC4R melanocortin 4 receptor
Gene ID: 4160, updated on 7-Apr-2024Gene type: protein coding
Also known as: BMIQ20
- See all available tests in GTR for this gene
- Go to complete Gene record for MC4R
- Go to Variation Viewer for MC4R variants
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. [provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. GeneReviews: Not available | |
| Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | See labs |
| Common genetic variation near MC4R is associated with waist circumference and insulin resistance. GeneReviews: Not available | |
| Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. GeneReviews: Not available | |
| Common variants near MC4R are associated with fat mass, weight and risk of obesity. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. GeneReviews: Not available | |
| Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. GeneReviews: Not available | |
| Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. GeneReviews: Not available | |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. GeneReviews: Not available | |
| Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. GeneReviews: Not available | |
| Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. GeneReviews: Not available |
Genomic context
- Location:
- 18q21.32
- Sequence:
- Chromosome: 18; NC_000018.10 (60371062..60372775, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MC4R variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MC4R database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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