MC4R melanocortin 4 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MC4Rprovided by HGNC
Official Full Name: melanocortin 4 receptorprovided by HGNC
Primary source: HGNC:HGNC:6932
See related: Ensembl:ENSG00000166603 MIM:155541; AllianceGenome:HGNC:6932
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BMIQ20
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]
Orthologs: mouse all
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Genomic context

Location:: 18q21.32

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (60371062..60372775, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (60574034..60575747, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (58038295..58040008, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
Title: Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
Title: The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.
Title: Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.
Title: Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.
Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity.
Title: Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity.
Predisposition of the Common MC4R rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits.
Title: Predisposition of the Common MC4R rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits.
Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.
Title: Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.
Computational analysis of missense variants of human MC4R and childhood obesity.
Title: Computational analysis of missense variants of human MC4R and childhood obesity.
Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
Title: Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.
Title: Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.

Submit: New GeneRIF Correction See all GeneRIFs (388)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 MedGen: C4759928 OMIM: 618406 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants near MC4R are associated with fat mass, weight and risk of obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481806

PMC314306P1 (e-PCR)
- UniSTS:272933

PMC314306P2 (e-PCR)
- UniSTS:272934

PMC314306P3 (e-PCR)
- UniSTS:272935

PMC314306P4 (e-PCR)
- UniSTS:272936

PMC314306P5 (e-PCR)
- UniSTS:272937

PMC314308P1 (e-PCR)
- UniSTS:272941

PMC310777P6 (e-PCR)
- UniSTS:272690

PMC310777P7 (e-PCR)
- UniSTS:272691

MC4R (e-PCR)
- UniSTS:266639

GDB:378002 (e-PCR)
- UniSTS:157071

RH70223 (e-PCR)
- UniSTS:60345

NoName (e-PCR)
- UniSTS:483261

MC4R (e-PCR)
- UniSTS:253891

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables melanocortin receptor activity	TAS Traceable Author Statement more info	PubMed
enables melanocyte-stimulating hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables melanocyte-stimulating hormone receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables melanocyte-stimulating hormone receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables neuropeptide binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptide hormone binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in diet induced thermogenesis	IEA Inferred from Electronic Annotation more info
involved_in energy reserve metabolic process	IEA Inferred from Electronic Annotation more info
involved_in feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of eating behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in regulation of metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to bisphenol A	IEA Inferred from Electronic Annotation more info
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to melanocyte-stimulating hormone	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: melanocortin receptor 4

Names: MC4-R; mutant melanocortin-4 receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.