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

    Gene ID: 17200, updated on 9-Dec-2024

    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 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, Dec 2024]
    Expression
    Biased expression in adrenal adult (RPKM 74.8) and subcutaneous fat pad adult (RPKM 7.1) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    Preferred Names
    adrenocorticotropic hormone receptor
    Names
    ACTH receptor
    adrenocorticotropin receptor
    melanocortin receptor 2

    NCBI Reference Sequences (RefSeq)

    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_001271716.1NP_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:41276
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:35291
      7tm_4; Olfactory receptor
    2. NM_001271717.1NP_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:41276
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:35291
      7tm_4; Olfactory receptor
    3. NM_001301372.1NP_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:41276
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:35291
      7tm_4; Olfactory receptor
    4. NM_008560.3NP_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:41276
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:35291
      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)