Mc2r melanocortin 2 receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mc2rprovided by MGI
Official Full Name: melanocortin 2 receptorprovided by MGI
Primary source: MGI:MGI:96928
See related: Ensembl:ENSMUSG00000045569 AllianceGenome:MGI:96928
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ACTHR; MC2-R; ACTH-R
Summary: Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway and regulation of metabolic process. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including adrenal gland; brain; hemolymphoid system gland; lung; and reproductive system. Human ortholog(s) of this gene implicated in West syndrome and glucocorticoid deficiency 1. Orthologous to human MC2R (melanocortin 2 receptor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 74.8) and subcutaneous fat pad adult (RPKM 7.1) See more
Orthologs: human all
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Genomic context

Location:: 18 E2; 18 41.89 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (68539970..68562391, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (68406899..68429320, 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

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

JDP2 acts as a novel transcriptional activator of the mouse Mc2r gene, suggesting that JDP2 may have physiological functions as a novel player in MC2R-mediated steroidogenesis as well as cell signaling in adrenal glands.
Title: Jun Dimerization Protein 2 Activates Mc2r Transcriptional Activity: Role of Phosphorylation and SUMOylation.
Data show that neuromedin B (NMB) expression was higher in the melanocortin 2 receptor MC2R(-/-) than in the wild-type (WT) mice.
Title: Expression and regulation of neuromedin B in pituitary corticotrophs of male melanocortin 2 receptor-deficient mice.
MC2R plays an important role for regular lipolytic function and lipid composition in 3T3-L1 adipocytes.
Title: Mc2 receptor knockdown modulates differentiation and lipid composition in adipocytes.
Functional melanocortin-2 receptors are expressed by mouse aorta-derived mesenchymal progenitor cells.
Title: Functional melanocortin-2 receptors are expressed by mouse aorta-derived mesenchymal progenitor cells.
melanocortin 2 receptor and melanocortin 5 receptor are lipolytic mediators in differentiated 3T3-L1 adipocytes
Title: Characterization of murine melanocortin receptors mediating adipocyte lipolysis and examination of signalling pathways involved.
MC2R+/- pups delivered from MC2R-/- females crossed with MC2R+/+ males mice thrived poorly with MC2R-/- mothers but grew to adulthood when transferred to foster mothers after birth, suggesting that MC2R-/- females are poor mothers or cannot nurse.
Title: The role of glucocorticoids in pregnancy, parturition, lactation, and nurturing in melanocortin receptor 2-deficient mice.
The promoter activity of Mc2r is activated by FOXL2 in a dose-dependent manner; transcriptional activity of Mc2r is up-regulated by synergistic interaction of FOXL2 and NR5A1.
Title: Synergistic activation of the Mc2r promoter by FOXL2 and NR5A1 in mice.
Data show that melanocortins regulate Il6 gene expression and production in 3T3-L1 adipocytes through melanocortin receptors 2 and 5.
Title: Melanocortins induce interleukin 6 gene expression and secretion through melanocortin receptors 2 and 5 in 3T3-L1 adipocytes.
The results establish that MRAP forms stable complexes with two different melanocortin receptors, facilitating surface expression of MC2 receptor but disrupting dimerization and surface localization of MC5 receptor.
Title: Opposite effects of the melanocortin-2 (MC2) receptor accessory protein MRAP on MC2 and MC5 receptor dimerization and trafficking.
Results describe the phenotype of mice deficient in melanocortin 2 receptor on a B6/Balbc mix background.
Title: Characterization of mice deficient in melanocortin 2 receptor on a B6/Balbc mix background.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mc2r (e-PCR), detects polymorphism
- UniSTS:464680

Mc2r (e-PCR), detects polymorphism
- UniSTS:498748

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables corticotropin receptor activity	IEA Inferred from Electronic Annotation more info
enables melanocortin receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
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	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 signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: adrenocorticotropic hormone receptor

Names: ACTH receptor; adrenocorticotropin receptor; melanocortin receptor 2

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_001271716.1 → NP_001258645.1 adrenocorticotropic hormone receptor

See identical proteins and their annotated locations for NP_001258645.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an internal exon in the 5' UTR, compared to variant 4. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AK033100, D85688, D85689

Consensus CDS

CCDS29328.1

UniProtKB/Swiss-Prot

Q64326

UniProtKB/TrEMBL

Q544P9

Conserved Domains (2) summary

pfam00001
Location:41 → 276

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:35 → 291

7tm_4; Olfactory receptor
NM_001271717.1 → NP_001258646.1 adrenocorticotropic hormone receptor

See identical proteins and their annotated locations for NP_001258646.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 4. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AC021063

Consensus CDS

CCDS29328.1

UniProtKB/Swiss-Prot

Q64326

UniProtKB/TrEMBL

Q544P9

Conserved Domains (2) summary

pfam00001
Location:41 → 276

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:35 → 291

7tm_4; Olfactory receptor
NM_001301372.1 → NP_001288301.1 adrenocorticotropic hormone receptor

See identical proteins and their annotated locations for NP_001288301.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes a 296aa protein. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AC021063

Consensus CDS

CCDS29328.1

UniProtKB/Swiss-Prot

Q64326

UniProtKB/TrEMBL

Q544P9

Conserved Domains (2) summary

pfam00001
Location:41 → 276

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:35 → 291

7tm_4; Olfactory receptor
NM_008560.3 → NP_032586.1 adrenocorticotropic hormone receptor

See identical proteins and their annotated locations for NP_032586.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two internal exons in the 5' UTR, compared to variant 4. Variants 1, 2, 3 and 4 encode the same protein.

Source sequence(s)

AK033100, D85688, D85689

Consensus CDS

CCDS29328.1

UniProtKB/Swiss-Prot

Q64326

UniProtKB/TrEMBL

Q544P9

Related

ENSMUSP00000058691.7, ENSMUST00000052347.8

Conserved Domains (2) summary

pfam00001
Location:41 → 276

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:35 → 291

7tm_4; Olfactory receptor