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
378207402024Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.0
378207402024Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.0
360530862023Specific Functions of Melanocortin 3 Receptor (MC3R).1
373393202023Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.3
373697692023Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.0
377162912023Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.0
360530862023Specific Functions of Melanocortin 3 Receptor (MC3R).1
373393202023Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.3
373697692023Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.0
377162912023Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.0
336216512021Identification and characterization of two novel melanocortin-3 receptor mutations in Chinese obese individuals.2
347328942021MC3R links nutritional state to childhood growth and the timing of puberty.38
336216512021Identification and characterization of two novel melanocortin-3 receptor mutations in Chinese obese individuals.2
347328942021MC3R links nutritional state to childhood growth and the timing of puberty.38
322407982020rs6127698 polymorphism in the MC3R gene and susceptibility to multifocal tuberculosis in southern Chinese Han population.3

Citation

Dessen P

MC3R (melanocortin 3 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57167/gene-fusions-explorer/meetings/