MC3R melanocortin 3 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MC3Rprovided by HGNC
Official Full Name: melanocortin 3 receptorprovided by HGNC
Primary source: HGNC:HGNC:6931
See related: Ensembl:ENSG00000124089 MIM:155540; AllianceGenome:HGNC:6931
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: MC3; OB20; OQTL; BMIQ9; MC3-R
Summary: This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 20q13.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (56248732..56249815)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (58023746..58024829)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (54823788..54824871)

Chromosome 20 - NC_000020.11 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?

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Title: Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
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.
Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.
Title: Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.
Specific Functions of Melanocortin 3 Receptor (MC3R).
Title: Specific Functions of Melanocortin 3 Receptor (MC3R).
MC3R links nutritional state to childhood growth and the timing of puberty.
Title: MC3R links nutritional state to childhood growth and the timing of puberty.
rs6127698 polymorphism in the MC3R gene and susceptibility to multifocal tuberculosis in southern Chinese Han population.
Title: rs6127698 polymorphism in the MC3R gene and susceptibility to multifocal tuberculosis in southern Chinese Han population.
Identification and characterization of two novel melanocortin-3 receptor mutations in Chinese obese individuals.
Title: Identification and characterization of two novel melanocortin-3 receptor mutations in Chinese obese individuals.
positive association between rare heterozygous coding partial/complete loss-of-function mutations and obesity in children and adults of European, North African, and Asian ancestries [meta-analysis]
Title: Loss-of-function mutations in the melanocortin-3 receptor gene confer risk for human obesity: A systematic review and meta-analysis.
in African-American adults homozygosity for the MC3R C17A + G241A haplotype was associated with a metabolically unhealthy phenotype, including increased BMI, fat mass, fat mass percentage, and systemic inflammation
Title: Associations of the melanocortin 3 receptor C17A + G241A haplotype with body composition and inflammation in African-American adults.
MC3R gene rs 3746619 polymorphism was found associated with polycystic ovary syndrome in the Turkish population and may make a contribution to the genetic baseline of the disease.
Title: Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population.

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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
OBESITY (BMIQ9), SUSCEPTIBILITY TO MedGen: C2677162 OMIM: 602025 GeneReviews: Not available	Compare labs

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:480643

GDB:178876 (e-PCR)
- UniSTS:155044

D20S438 (e-PCR)
- UniSTS:44981

MC3R_1509 (e-PCR)
- UniSTS:277482

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	IPI Inferred from Physical Interaction more info	PubMed
enables neuropeptide binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptide hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
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 circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in homoiothermy	IEA Inferred from Electronic Annotation more info
involved_in locomotor rhythm	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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 3

Names: obesity quantitative trait locus

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.