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MC2R melanocortin 2 receptor [ Homo sapiens (human) ]

Gene ID: 4158, updated on 4-Jun-2020

Summary

Official Symbol
MC2Rprovided by HGNC
Official Full Name
melanocortin 2 receptorprovided by HGNC
Primary source
HGNC:HGNC:6930
See related
Ensembl:ENSG00000185231 MIM:607397
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
ACTHR
Summary
MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
Expression
Restricted expression toward adrenal (RPKM 16.0) See more
Orthologs

Genomic context

See MC2R in Genome Data Viewer
Location:
18p11.21
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (13882042..13915707, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (13882043..13915535, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA guanine-7 methyltransferase Neighboring gene melanocortin 5 receptor Neighboring gene ribosomal protein L36a pseudogene 49 Neighboring gene NSE4 homolog A, SMC5-SMC6 complex component pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
corticotropin receptor activity IEA
Inferred from Electronic Annotation
more info
 
melanocortin receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
adrenocorticotropic hormone receptor
Names
ACTH receptor
MC2 receptor
adrenocorticotropin receptor
corticotropin receptor
melanocortin 2 receptor (adrenocorticotropic hormone)

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011819.1 RefSeqGene

    Range
    5001..38493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000529.2NP_000520.1  adrenocorticotropic hormone receptor

    See identical proteins and their annotated locations for NP_000520.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein.
    Source sequence(s)
    AP001086, BC094710
    Consensus CDS
    CCDS11869.1
    UniProtKB/Swiss-Prot
    Q01718
    Related
    ENSP00000333821.2, ENST00000327606.4
    Conserved Domains (1) summary
    cd15350
    Location:25287
    7tmA_MC2R_ACTH_R; melanocortin receptor subtype 2, also called adrenocorticotropic hormone receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
  2. NM_001291911.1NP_001278840.1  adrenocorticotropic hormone receptor

    See identical proteins and their annotated locations for NP_001278840.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AP001086, BP196054
    Consensus CDS
    CCDS11869.1
    UniProtKB/Swiss-Prot
    Q01718
    Conserved Domains (1) summary
    cd15350
    Location:25287
    7tmA_MC2R_ACTH_R; melanocortin receptor subtype 2, also called adrenocorticotropic hormone receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    13882042..13915707 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025781.1XP_016881270.1  adrenocorticotropic hormone receptor isoform X1

    UniProtKB/Swiss-Prot
    Q01718
    Conserved Domains (1) summary
    cd15350
    Location:25287
    7tmA_MC2R_ACTH_R; melanocortin receptor subtype 2, also called adrenocorticotropic hormone receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
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