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MC4R melanocortin 4 receptor [ Homo sapiens (human) ]

Gene ID: 4160, updated on 29-Nov-2020

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
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

Genomic context

See MC4R in Genome Data Viewer
Location:
18q21.32
Exon count:
1
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (60371062..60372775, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (58038564..58040001, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene general transcription factor IIH subunit 1 pseudogene Neighboring gene uncharacterized LOC105372155 Neighboring gene dynein light chain roadblock-type 1 pseudogene Neighboring gene mitochondrial ribosomal protein S5 pseudogene 4

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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
MedGen: C4759928 OMIM: 618406 GeneReviews: Not available
Compare 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126851, MGC138197

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocortin receptor activity TAS
Traceable Author Statement
more info
PubMed 
melanocyte-stimulating hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte-stimulating hormone receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
melanocyte-stimulating hormone receptor activity IPI
Inferred from Physical Interaction
more info
PubMed 
neuropeptide binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
diet induced thermogenesis IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process IEA
Inferred from Electronic Annotation
more info
 
feeding behavior IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of feeding behavior IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone resorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of grooming behavior IEA
Inferred from Electronic Annotation
more info
 
regulation of metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
melanocortin receptor 4
Names
MC4-R

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016441.1 RefSeqGene

    Range
    4994..6707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005912.3NP_005903.2  melanocortin receptor 4

    See identical proteins and their annotated locations for NP_005903.2

    Status: REVIEWED

    Source sequence(s)
    AC091576, AU310210, BC101802, DA362673
    Consensus CDS
    CCDS11976.1
    UniProtKB/Swiss-Prot
    P32245
    Related
    ENSP00000299766.3, ENST00000299766.5
    Conserved Domains (1) summary
    cd15353
    Location:45313
    7tmA_MC4R; melanocortin receptor subtype 4, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    60371062..60372775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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