MC4R (melanocortin 4 receptor)

2008-07-01  

Identity

HGNC
LOCATION
18q21.32
LOCUSID
ALIAS
BMIQ20

Other Information

Locus ID:

NCBI: 4160
MIM: 155541
HGNC: 6932
Ensembl: ENSG00000166603

Variants:

dbSNP: 4160
ClinVar: 4160
TCGA: ENSG00000166603
COSMIC: MC4R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166603ENST00000299766P32245

Expression (GTEx)

0
1
2
3
4

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10026aripiprazoleChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA153906318Autism Spectrum DisorderDiseaseClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA162565877amisulprideChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA163518919paliperidoneChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA166123368schizoaffective disorderDiseaseClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD22310352, 22566560, 23277235, 23799528, 23920449, 27217270
PA449061clozapineChemicalClinicalAnnotationassociatedPD22310352, 22566560, 23799528, 23920449, 27217270
PA449841haloperidolChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA450688olanzapineChemicalClinicalAnnotationassociatedPD22310352, 22566560, 23799528, 23920449, 27217270
PA451201quetiapineChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA451257risperidoneChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA451974ziprasidoneChemicalClinicalAnnotationassociatedPD22566560, 23799528, 23920449, 27217270
PA452233antipsychoticsChemicalClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD22310352, 23277235, 23920449, 24885933

References

Pubmed IDYearTitleCitations
190792612009Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.700
190792602009Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.517
184541482008Common variants near MC4R are associated with fat mass, weight and risk of obesity.459
184541482008Common variants near MC4R are associated with fat mass, weight and risk of obesity.459
191517142009Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.263
191517142009Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.263
184541462008Common genetic variation near MC4R is associated with waist circumference and insulin resistance.190
184541462008Common genetic variation near MC4R is associated with waist circumference and insulin resistance.190
190921462009Modulation of blood pressure by central melanocortinergic pathways.152
204219362010Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.125

Citation

Dessen P

MC4R (melanocortin 4 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50231/mc4r