U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 17200, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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 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, Nov 2024]
Expression
Biased expression in adrenal adult (RPKM 74.8) and subcutaneous fat pad adult (RPKM 7.1) See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Mc2r in Genome Data Viewer
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_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54023 Neighboring gene predicted gene, 54024 Neighboring gene STARR-seq mESC enhancer starr_44928 Neighboring gene STARR-seq mESC enhancer starr_44929 Neighboring gene predicted gene, 29677 Neighboring gene STARR-seq mESC enhancer starr_44930 Neighboring gene predicted gene, 41765 Neighboring gene STARR-seq mESC enhancer starr_44932 Neighboring gene predicted gene, 30700 Neighboring gene predicted gene, 30641

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Functional hypothalamic amenorrhea due to increased CRH tone in melanocortin receptor 2-deficient mice. Matsuwaki T, et al. Endocrinology, 2010 Nov. PMID 20881239
  2. ACTH 1-24 inhibits proliferation of adrenocortical tumors in vivo. Zwermann O, et al. Eur J Endocrinol, 2005 Sep. PMID 16131607
  3. A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes. Noon LA, et al. J Biol Chem, 2004 May 28. PMID 15028712
  4. Alternate promoter and 5'-untranslated exon usage of the mouse adrenocorticotropin receptor gene in adipose tissue. Kubo M, et al. Endocr J, 2004 Feb. PMID 15004405
  5. ACTH stimulates insulin secretion from MIN6 cells and primary mouse and human islets of Langerhans. Al-Majed HT, et al. J Endocrinol, 2004 Jan. PMID 14709154

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (2)  1 citation

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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
  
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 neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in placenta development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of metabolic process IBA
Inferred from Biological aspect of Ancestor
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 IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
adrenocorticotropic hormone receptor
Names
ACTH receptor
adrenocorticotropin receptor
melanocortin receptor 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

  2. 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

  3. 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

  4. 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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    68539970..68562391 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q64326.1 GenPept UniProtKB/Swiss-Prot:Q64326

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous