• Gene id: 4159

Gene Summary

• Gene Symbol: MC3R   Gene   UCSC   Ensembl
• Aliases: BMIQ9, MC3, MC3-R, OB20, OQTL
• Gene name: melanocortin 3 receptor
• Alternate names: melanocortin receptor 3, obesity quantitative trait locus,
• Gene location: 20q13.2 (56248731: 56249814)     Exons: 1     NC_000020.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P41968  
  • Name: Melanocortin receptor 3 (MC3 R)
  • Length: 323  
  • Mass: 36043
  • Tissue specificity: Brain, placental, and gut tissues.
• Sequence:

  MNASCCLPSVQPTLPNGSEHLQAPFFSNQSSSAFCEQVFIKPEVFLSLGIVSLLENILVILAVVRNGNLHSPMYF
  FLCSLAVADMLVSVSNALETIMIAIVHSDYLTFEDQFIQHMDNIFDSMICISLVASICNLLAIAVDRYVTIFYAL
  RYHSIMTVRKALTLIVAIWVCCGVCGVVFIVYSESKMVIVCLITMFFAMMLLMGTLYVHMFLFARLHVKRIAALP
  PADGVAPQQHSCMKGAVTITILLGVFIFCWAPFFLHLVLIITCPTNPYCICYTAHFNTYLVLIMCNSVIDPLIYA
  FRSLELRNTFREILCGCNGMNLG

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR002122  IPR001908  IPR001671  
  • Prosite: PS00237 PS50262
  • DIP: 48790
  • STRING: ENSP00000243911
• Other Databases: GeneCards:  MC3R  Malacards:  MC3R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004980	melanocyte-stimulating hormone receptor activity	IBA	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0019222	regulation of metabolic process	IBA	biological process
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0042923	neuropeptide binding	IMP	molecular function
GO:0004977	melanocortin receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004977	melanocortin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060259	regulation of feeding behavior	IEA	biological process
GO:0045475	locomotor rhythm	IEA	biological process
GO:0004980	melanocyte-stimulating hormone receptor activity	IEA	molecular function
GO:0017046	peptide hormone binding	IEA	molecular function
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004977	melanocortin receptor activity	IEA	molecular function
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0055078	sodium ion homeostasis	IEA	biological process
GO:0042309	homoiothermy	IEA	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0004980	melanocyte-stimulating hormone receptor activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Genetic obesity	KEGG:H02106
obesity	PMID:16123355
obesity	PMID:11889220
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray