MC5R melanocortin 5 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MC5Rprovided by HGNC
Official Full Name: melanocortin 5 receptorprovided by HGNC
Primary source: HGNC:HGNC:6933
See related: Ensembl:ENSG00000176136 MIM:600042; AllianceGenome:HGNC:6933
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MC2
Summary: This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
Orthologs: mouse all
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Genomic context

Location:: 18p11.21

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (13824149..13827323)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (13986528..13989701)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (13824148..13827322)

Chromosome 18 - NC_000018.10 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?

Evaluation of perilipin 2 and melanocortin 5 receptor serum levels with sebogenesis in acne vulgaris patients.
Title: Evaluation of perilipin 2 and melanocortin 5 receptor serum levels with sebogenesis in acne vulgaris patients.
MCR5 is a modulator of the responses stimulated by glucose in ARPE-19 cells, which might possibly be translated into a modulation of the retinal pigment epithelium response to diabetes in vivo.
Title: ARPE-19-derived VEGF-containing exosomes promote neovascularization in HUVEC: the role of the melanocortin receptor 5.
Mutations in residues S4/S5 and S17/E18 retained MC5R at the ER/Golgi complex and did not affect MC5R homodimerization.
Title: Cell surface targeting of the Melanocortin 5 Receptor (MC5R) requires serine-rich terminal motifs.
melanocortin receptors MC2R, MC3R and MC5R are most abundantly expressed in glandular epithelium of the endometrium
Title: Expression of melanocortin receptors in human endometrium.
MC2R and MC1R signals are consecutively required for the regulation of EPO signal transduction in erythroblast differentiation, and MC5R signal transduction is required to induce enucleation.
Title: Melanocortins contribute to sequential differentiation and enucleation of human erythroblasts via melanocortin receptors 1, 2 and 5.
D115 and D119 in TM3, F195 in TM5, and F254 in TM6 may form a binding pocket for NDP-alpha-MSH binding.
Title: Molecular characterization of human melanocortin-5 receptor ligand-receptor interaction.
Melanocortin 5 receptor signaling and internalization: role of MAPK/ERK pathway and beta-arrestins 1/2.
Title: Melanocortin 5 receptor signaling and internalization: role of MAPK/ERK pathway and β-arrestins 1/2.
Data suggest that antagonists of MC1R and MC5R could be effective inhibitors of sebaceous gland differentiation and the production of sebum-specific lipids.
Title: A melanocortin receptor 1 and 5 antagonist inhibits sebaceous gland differentiation and the production of sebum-specific lipids.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
MC5R signals through a PI3K-regulated Akt-independent pathway leading to downstream activation of ERK1/2
Title: Melanocortin 5 receptor activates ERK1/2 through a PI3K-regulated signaling mechanism.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

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See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_28657-28658:1062515202:1 (e-PCR)
- UniSTS:269147

NoName (e-PCR)
- UniSTS:481427

RH71364 (e-PCR)
- UniSTS:88742

MC5R (e-PCR)
- UniSTS:253892

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone binding	IEA Inferred from Electronic Annotation more info
enables melanocortin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: melanocortin receptor 5

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.