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] See more...

Aliases for MC5R Gene

Aliases for MC5R Gene

  • Melanocortin 5 Receptor 2 3 5
  • Melanocortin Receptor 5 3 4
  • MC5-R 4
  • MC5R 5
  • MC-2 4
  • MC2 3

External Ids for MC5R Gene

Previous GeneCards Identifiers for MC5R Gene

  • GC18M013920
  • GC18P013911

Summaries for MC5R Gene

Entrez Gene Summary for MC5R Gene

  • 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]

GeneCards Summary for MC5R Gene

MC5R (Melanocortin 5 Receptor) is a Protein Coding gene. Diseases associated with MC5R include Familial Glucocorticoid Deficiency and Autoimmune Disease Of Eyes, Ear, Nose And Throat. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and melanocortin receptor activity. An important paralog of this gene is MC4R.

UniProtKB/Swiss-Prot Summary for MC5R Gene

  • Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins.

Tocris Summary for MC5R Gene

  • Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.

Gene Wiki entry for MC5R Gene

Additional gene information for MC5R Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MC5R Gene

Genomics for MC5R Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MC5R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J013824 Promoter/Enhancer 1.6 FANTOM5 Ensembl CraniofacialAtlas 603.9 +0.1 52 0.8 CTCF ZNF692 BACH1 LARP7 ZNF143 ZNF776 REST RAD21 ZNF501 TRIM22 MC5R CEP192 ENSG00000267756 PTPN2 RNMT ENSG00000266969 ZNF519 piR-39858-299 MC2R
GH18J013796 Enhancer 0.6 Ensembl ENCODE 12.2 -26.8 -26848 2.2 RFX5 GABPB1 GATAD1 JUN CTCF ZNF644 MC5R piR-46343-002 piR-32170 FAM210A
GH18J013890 Enhancer 0.7 FANTOM5 Ensembl 6.2 +66.4 66425 1.7 MNT FOXA2 FOSL2 FOS JUND ARID3A BHLHE40 JUN MC2R MC5R FAM210A lnc-MC2R-1 piR-31534-311
GH18J013369 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 5.5 -454.2 -454217 1.2 ZFHX2 GLIS1 EGR2 MC5R ENSG00000267393 LDLRAD4-AS1 lnc-LDLRAD4-1 LDLRAD4 RNMT
GH18J013893 Enhancer 0.7 FANTOM5 4.7 +69.5 69461 0.2 ZNF143 RELA TCF12 RCOR1 EED ARID3A DPF2 RELB RUNX3 BCLAF1 MC2R RPL36AP49 MC5R lnc-MC2R-1 piR-31534-311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MC5R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MC5R

Top Transcription factor binding sites by QIAGEN in the MC5R gene promoter:
  • AML1a
  • AREB6
  • ATF6
  • CRE-BP1
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)

Genomic Locations for MC5R Gene

Genomic Locations for MC5R Gene
chr18:13,824,149-13,827,323
(GRCh38/hg38)
Size:
3,175 bases
Orientation:
Plus strand
chr18:13,824,154-13,826,861
(GRCh37/hg19)
Size:
2,708 bases
Orientation:
Plus strand

Genomic View for MC5R Gene

Genes around MC5R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MC5R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MC5R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MC5R Gene

Proteins for MC5R Gene

  • Protein details for MC5R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33032-MC5R_HUMAN
    Recommended name:
    Melanocortin receptor 5
    Protein Accession:
    P33032
    Secondary Accessions:
    • B0YJ34
    • Q502V1

    Protein attributes for MC5R Gene

    Size:
    325 amino acids
    Molecular mass:
    36601 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MC5R Gene

Post-translational modifications for MC5R Gene

  • Glycosylation at Asn2, Asn15, Asn20, and Asn28
  • Modification sites at PhosphoSitePlus

Other Protein References for MC5R Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MC5R Gene

Domains & Families for MC5R Gene

Gene Families for MC5R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for MC5R Gene

InterPro:
Blocks:
  • Melanocortin receptor family signature
  • Melanocortin receptor signature
  • Melanocortin 5 receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for MC5R Gene

GenScript: Design optimal peptide antigens:
  • MC-2 (MC5R_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P33032

UniProtKB/Swiss-Prot:

MC5R_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MC5R: view

Function for MC5R Gene

Molecular function for MC5R Gene

UniProtKB/Swiss-Prot Function:
Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins.
GENATLAS Biochemistry:
melanocortin receptor 5,expressed in brain,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for MC5R Gene

Gene Ontology (GO) - Molecular Function for MC5R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA,IBA 21873635
GO:0004977 melanocortin receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 19329486
GO:0042562 hormone binding IEA --
genes like me logo Genes that share ontologies with MC5R: view
genes like me logo Genes that share phenotypes with MC5R: view

Animal Models for MC5R Gene

MGI Knock Outs for MC5R:
  • Mc5r Mc5r<tm1Cone>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MC5R

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MC5R Gene

Localization for MC5R Gene

Subcellular locations from UniProtKB/Swiss-Prot for MC5R Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MC5R gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MC5R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7739752
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MC5R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MC5R Gene

Pathways & Interactions for MC5R Gene

genes like me logo Genes that share pathways with MC5R: view

SIGNOR curated interactions for MC5R Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MC5R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 7739752
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA 19329486
GO:0019222 regulation of metabolic process IBA 21873635
genes like me logo Genes that share ontologies with MC5R: view

Drugs & Compounds for MC5R Gene

(21) Drugs for MC5R Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bremelanotide Approved, Investigational Pharma Target, agonist 0
Afamelanotide Approved, Investigational Pharma 11
Melanotan II Pharma High affinity melanocortin receptor agonist 0
&alpha;-MSH Pharma Agonist, Full agonist 0
[<sup>125</sup>I]NDP-MSH Pharma Agonist, Full agonist 0

(5) Additional Compounds for MC5R Gene - From: IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NDP-MSH
Agonist, Full agonist
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
Melanocyte-stimulating hormone release inhibiting factor
2002-44-0

(5) Tocris Compounds for MC5R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist 75921-69-6
alpha-MSH Endogenous melanocortin receptor agonist 581-05-5
Melanocyte-stimulating hormone release inhibiting factor Inhibitor of alpha-MSH release; inhibits opioid effects in vivo 2002-44-0
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2

(7) ApexBio Compounds for MC5R Gene

Compound Action Cas Number
[D-Trp8]-γ-MSH 321351-81-9
[Nle4,D-Phe7]-α-MSH 75921-69-6
HS 014 207678-81-7
HS 024 212370-59-7
Melanotan II 121062-08-6
ML 00253764 hydrochloride
α-MSH 581-05-5
genes like me logo Genes that share compounds with MC5R: view

Drug Products

Transcripts for MC5R Gene

mRNA/cDNA for MC5R Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MC5R

Alternative Splicing Database (ASD) splice patterns (SP) for MC5R Gene

No ASD Table

Relevant External Links for MC5R Gene

GeneLoc Exon Structure for
MC5R

Expression for MC5R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MC5R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MC5R Gene

This gene is overexpressed in Esophagus - Mucosa (x10.4), Testis (x7.2), and Skin - Not Sun Exposed (Suprapubic) (x5.5).

Protein differential expression in normal tissues from HIPED for MC5R Gene

This gene is overexpressed in Liver (61.9) and Pancreatic juice (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MC5R Gene



Protein tissue co-expression partners for MC5R Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MC5R

SOURCE GeneReport for Unigene cluster for MC5R Gene:

Hs.248145

mRNA Expression by UniProt/SwissProt for MC5R Gene:

P33032-MC5R_HUMAN
Tissue specificity: Expressed in the brain but not in the melanoma cells.

Evidence on tissue expression from TISSUES for MC5R Gene

  • Nervous system(3.3)
  • Adrenal gland(2.8)
  • Muscle(2.4)
  • Liver(2.4)
  • Heart(2.2)
  • Kidney(2.2)
  • Intestine(2.1)
  • Skin(2)
  • Blood(2)
genes like me logo Genes that share expression patterns with MC5R: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MC5R Gene

Orthologs for MC5R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC5R Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MC5R 30
  • 99.18 (n)
Dog
(Canis familiaris)
Mammalia MC5R 30 31
  • 85.83 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MC5R 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mc5r 30
  • 82.72 (n)
Cow
(Bos Taurus)
Mammalia MC5R 30 31
  • 82.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mc5r 30 17 31
  • 81.92 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MC5R 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MC5R 30 31
  • 74.28 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mc5r 30
  • 69.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii mc5ra 30 31
  • 72.48 (n)
OneToMany
mc5rb 31
  • 67 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
ManyToMany
-- 31
  • 16 (a)
ManyToMany
Species where no ortholog for MC5R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MC5R Gene

ENSEMBL:
Gene Tree for MC5R (if available)
TreeFam:
Gene Tree for MC5R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MC5R: view image

Paralogs for MC5R Gene

(10) SIMAP similar genes for MC5R Gene using alignment to 2 proteins:

  • MC5R_HUMAN
  • K7ER30_HUMAN
genes like me logo Genes that share paralogs with MC5R: view

Variants for MC5R Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MC5R Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
777720 Benign: not provided 13,826,140(+) C/T SYNONYMOUS_VARIANT
rs2236700 - p.Phe209Leu

Additional dbSNP identifiers (rs#s) for MC5R Gene

Structural Variations from Database of Genomic Variants (DGV) for MC5R Gene

Variant ID Type Subtype PubMed ID
nsv1066142 CNV loss 25217958
nsv1071832 CNV deletion 25765185
nsv576529 CNV gain 21841781
nsv576530 CNV loss 21841781

Variation tolerance for MC5R Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.99; 87.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MC5R Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MC5R

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MC5R Gene

Disorders for MC5R Gene

MalaCards: The human disease database

(5) MalaCards diseases for MC5R Gene - From: DISEASES and Novoseek

- elite association - COSMIC cancer census association via MalaCards
Search MC5R in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MC5R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MC5R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MC5R Gene

Publications for MC5R Gene

  1. Expression, candidate gene, and population studies of the melanocortin 5 receptor. (PMID: 11286624) Hatta N … Rees JL (The Journal of investigative dermatology 2001) 3 4 23 41
  2. Glutamine235 and arginine272 in human melanocortin 5 receptor determines its low affinity to MSH. (PMID: 9240466) Frändberg PA … Chhajlani V (Biochemical and biophysical research communications 1997) 3 4 23
  3. Molecular cloning of a novel human melanocortin receptor. (PMID: 8396929) Chhajlani V … Wikberg JE (Biochemical and biophysical research communications 1993) 2 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41

Products for MC5R Gene

  • Addgene plasmids for MC5R

Sources for MC5R Gene