MC3R (melanocortin 3 receptor)

2017-10-01  

Identity

HGNC
LOCATION
20q13.2
LOCUSID
ALIAS
BMIQ9,MC3,MC3-R,OB20,OQTL

Other Information

Locus ID:

NCBI: 4159
MIM: 155540
HGNC: 6931
Ensembl: ENSG00000124089

Variants:

dbSNP: 4159
ClinVar: 4159
TCGA: ENSG00000124089
COSMIC: MC3R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124089ENST00000243911P41968

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190917952009Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.43
190917952009Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.43
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
161233552005Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity.36
204680642010Association study of 182 candidate genes in anorexia nervosa.30
205389602010A candidate gene study of obstructive sleep apnea in European Americans and African Americans.30
118892202002A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.29
118892202002A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.29
155971102005Melanocortin-4 receptor gene and physical activity in the Québec Family Study.29
184209632008Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.28

Citation

Dessen P

MC3R (melanocortin 3 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57167/mc3r