Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4159
Gene name	Melanocortin 3 receptor
Gene symbol	MC3R
Synonyms (NCBI Gene)	BMIQ9MC3MC3-ROB20OQTL
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

Show/Hide all (2)

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

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	TAS	8175743
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IEA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8463333
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	8175743
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	8175743
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
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:0048511	Process	Rhythmic process	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0060259	Process	Regulation of feeding behavior	IEA

MIM	HGNC	e!Ensembl
155540	6931	ENSG00000124089

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

Tissue specificity

TISSUE SPECIFICITY: Brain, placental, and gut tissues.

Sequence

MNASCCLPSVQPTLPNGSEHLQAPFFSNQSSSAFCEQVFIKPEVFLSLGIVSLLENILVI
LAVVRNGNLHSPMYFFLCSLAVADMLVSVSNALETIMIAIVHSDYLTFEDQFIQHMDNIF
DSMICISLVASICNLLAIAVDRYVTIFYALRYHSIMTVRKALTLIVAIWVCCGVCGVVFI
VYSESKMVIVCLITMFFAMMLLMGTLYVHMFLFARLHVKRIAALPPADGVAPQQHSCMKG
AVTITILLGVFIFCWAPFFLHLVLIITCPTNPYCICYTAHFNTYLVLIMCNSVIDPLIYA
FRSLELRNTFREILCGCNGMNLG

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling		Peptide ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
MC3R-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs61735259, rs2146061616, rs143321797, rs760789846, rs145062060, rs764841394, rs138496952, rs61735256, rs767948272, rs201051836, rs370084821, rs143370838, rs1184694999, rs372944947, rs773530462 View all (17 more)	RCV003976028 RCV004749808 RCV003408212 RCV003410109 RCV003973565 RCV003936475 RCV003928909 RCV003399634 RCV003417027 RCV003427844 RCV003417108 RCV003408674 RCV003414325 RCV003414164 RCV003402718 RCV004750391 RCV004750426 RCV004750429 RCV004750434 RCV003921497 RCV003921555 RCV003901519 RCV003899141 RCV003943972 RCV003963927 RCV003964112 RCV003941405 RCV003949310 RCV003924229 RCV003969705 RCV003970843 RCV003920554
Obesity	Likely benign	rs779705192	RCV002464550
OBESITY (BMIQ9), SUSCEPTIBILITY TO	risk factor	rs74315393, rs121913556	RCV000022657 RCV000022658
See cases	Uncertain significance	rs1000156919, rs143321797	RCV004584517 RCV004584554

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acrophobia	Associate	37369769
Arthritis Rheumatoid	Associate	28426141
Diabetes Mellitus	Associate	37070693
Diabetes Mellitus Type 2	Associate	35955479
Growth Disorders	Associate	37369769
Hyperinsulinism	Associate	22079958
Inflammation	Associate	18614155, 30937899, 37716291
Insulin Resistance	Associate	16123355
Neoplasms	Associate	38057752
Neoplasms Adipose Tissue	Associate	26663875, 30937899
Obesity	Associate	15276649, 16123355, 17413091, 17639020, 17964765, 18551113, 18614155, 19091795, 19656839, 20539302, 21368909, 22884546, 24081230, 24142065, 25798062 View all (12 more)
Obesity Morbid	Associate	33621651
Overweight	Associate	16123355
Polycystic Ovary Syndrome	Associate	30784330
Puberty Delayed	Associate	37369769
Thyroid Neoplasms	Associate	38057752
Tuberculosis	Associate	18420963, 21368909
Weight Gain	Associate	16123355
Weight Loss	Associate	17413091

MC3R (melanocortin 3 receptor)