Mc4r melanocortin 4 receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mc4rprovided by MGI
Official Full Name: melanocortin 4 receptorprovided by MGI
Primary source: MGI:MGI:99457
See related: Ensembl:ENSMUSG00000047259 AllianceGenome:MGI:99457
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pkcp; Mc4-r
Summary: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis. Disruption of this gene promotes hyperphagia and obesity, and is associated with increased cholesterol levels and insulin resistance. [provided by RefSeq, Dec 2012]
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 39.72 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (66990776..66993558, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (66857705..66860487, complement)

Chromosome 18 - NC_000084.7 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?

Maid gene dysfunction promotes hyperobesity via the reduction of adipose tissue inflammation in Mc4r gene-deficient mice.
Title: Maid gene dysfunction promotes hyperobesity via the reduction of adipose tissue inflammation in Mc4r gene-deficient mice.
Hypothalamic POMC neuron-specific knockout of MC4R affects insulin sensitivity by regulating Kir2.1.
Title: Hypothalamic POMC neuron-specific knockout of MC4R affects insulin sensitivity by regulating Kir2.1.
A human obesity-associated MC4R mutation with defective Gq/11alpha signaling leads to hyperphagia in mice.
Title: A human obesity-associated MC4R mutation with defective Gq/11α signaling leads to hyperphagia in mice.
Protection against overfeeding-induced weight gain is preserved in obesity but does not require FGF21 or MC4R.
Title: Protection against overfeeding-induced weight gain is preserved in obesity but does not require FGF21 or MC4R.
Melanocortin-4 receptor in macrophages attenuated angiotensin II-induced abdominal aortic aneurysm in mice.
Title: Melanocortin-4 receptor in macrophages attenuated angiotensin II-induced abdominal aortic aneurysm in mice.
Melanocortin 4 receptor signaling in Sim1 neurons permits sexual receptivity in female mice.
Title: Melanocortin 4 receptor signaling in Sim1 neurons permits sexual receptivity in female mice.
Glutamatergic melanocortin-4 receptor neurons regulate body weight.
Title: Glutamatergic melanocortin-4 receptor neurons regulate body weight.
Prefrontal cortex melanocortin 4 receptors (MC4R) mediate food intake behavior in male mice.
Title: Prefrontal cortex melanocortin 4 receptors (MC4R) mediate food intake behavior in male mice.
Collateralizing ventral subiculum melanocortin 4 receptor circuits regulate energy balance and food motivation.
Title: Collateralizing ventral subiculum melanocortin 4 receptor circuits regulate energy balance and food motivation.
Islet MC4R Regulates PC1/3 to Improve Insulin Secretion in T2DM Mice via the cAMP and beta-arrestin-1 Pathways.
Title: Islet MC4R Regulates PC1/3 to Improve Insulin Secretion in T2DM Mice via the cAMP and β-arrestin-1 Pathways.

Submit: New GeneRIF Correction See all GeneRIFs (120)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (12) 1 citation
Endonuclease-mediated (18) 1 citation
Not Applicable (2) 1 citation
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC314306P3 (e-PCR)
- UniSTS:272935

NoName (e-PCR)
- UniSTS:491404

MC4R (e-PCR)
- UniSTS:266639

Mc4r (e-PCR), detects polymorphism
- UniSTS:507057

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hormone binding	ISO Inferred from Sequence Orthology more info
enables melanocortin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables melanocortin receptor activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables neuropeptide binding	IEA Inferred from Electronic Annotation more info
enables neuropeptide binding	ISO Inferred from Sequence Orthology more info
enables peptide hormone binding	IEA Inferred from Electronic Annotation more info
enables peptide hormone binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

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	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in diet induced thermogenesis	IEA Inferred from Electronic Annotation more info
involved_in diet induced thermogenesis	ISO Inferred from Sequence Orthology more info
involved_in energy reserve metabolic process	IEA Inferred from Electronic Annotation more info
involved_in energy reserve metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within feeding behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in feeding behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within insulin secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of feeding behavior	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of bone resorption	ISO Inferred from Sequence Orthology more info
involved_in regulation of eating behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of feeding behavior	ISO Inferred from Sequence Orthology more info
involved_in regulation of grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in regulation of grooming behavior	ISO Inferred from Sequence Orthology more info
involved_in regulation of metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to bisphenol A	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to food	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to insulin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to melanocyte-stimulating hormone	IMP Inferred from Mutant Phenotype more info	PubMed

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	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: melanocortin receptor 4

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.

mRNA and Protein(s)

NM_016977.4 → NP_058673.2 melanocortin receptor 4

See identical proteins and their annotated locations for NP_058673.2

Status: REVIEWED

Source sequence(s)

AK136793, BB633776, BY646801

Consensus CDS

CCDS29316.1

UniProtKB/Swiss-Prot

P56450, Q49NR4, Q9EQM7

UniProtKB/TrEMBL

Q49NR1

Related

ENSMUSP00000054776.3, ENSMUST00000057942.4

Conserved Domains (1) summary

cd15353
Location:45 → 313

7tmA_MC4R; melanocortin receptor subtype 4, member of the class A family of seven-transmembrane G protein-coupled receptors