MC3R (melanocortin 3 receptor)

Gene

• Entrez ID: 4159
• Gene name: Melanocortin 3 receptor
• Gene symbol: MC3R
• Synonyms: BMIQ9, MC3, MC3-R, OB20, OQTL
• Chromosome: 20
• Chromosome location: 20q13.2
• Summary: This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonata

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315393	T>A	Risk-factor	Coding sequence variant, missense variant
rs121913556	T>C,G	Risk-factor	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004977	Function	Melanocortin receptor activity	TAS	8175743
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA	21873635
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8463333
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	8175743
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	8175743
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0017046	Function	Peptide hormone binding	IBA	21873635
GO:0019222	Process	Regulation of metabolic process	IBA	21873635
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0042309	Process	Homoiothermy	IEA
GO:0042923	Function	Neuropeptide binding	IMP	15927146
GO:0045475	Process	Locomotor rhythm	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060259	Process	Regulation of feeding behavior	IEA

Other IDs

• MIM: 155540
• HGNC: 6931
• e!Ensembl: ENSG00000124089

Protein

• UniProt ID: P41968
• Protein name: Melanocortin receptor 3 (MC3-R)
• Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availabi
• PDB: 8IOC, 8KIG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	55 → 299	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MNASCCLPSVQPTLPNGSEHLQAPFFSNQSSSAFCEQVFIKPEVFLSLGIVSLLENILVI
  LAVVRNGNLHSPMYFFLCSLAVADMLVSVSNALETIMIAIVHSDYLTFEDQFIQHMDNIF
  DSMICISLVASICNLLAIAVDRYVTIFYALRYHSIMTVRKALTLIVAIWVCCGVCGVVFI
  VYSESKMVIVCLITMFFAMMLLMGTLYVHMFLFARLHVKRIAALPPADGVAPQQHSCMKG
  AVTITILLGVFIFCWAPFFLHLVLIITCPTNPYCICYTAHFNTYLVLIMCNSVIDPLIYA
  FRSLELRNTFREILCGCNGMNLG

• Sequence length: 323

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling

Reactome:

Peptide ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Obesity	Obesity, NON RARE IN EUROPE: Obesity due to MC3R deficiency	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840