MC4R (melanocortin 4 receptor)

2008-07-01  

Identity

HGNC
MC4R
LOCATION
18q21.32
LOCUSID
4160
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
378207402024Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.0
381976792024Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity.0
385280402024Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.1
378207402024Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.0
381976792024Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity.0
385280402024Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.1
362106012023Functional alterations of two novel MC4R mutations found in Argentinian pediatric patients with early onset obesity.0
367574492023Genetic association of the rs17782313 polymorphism with antipsychotic-induced weight gain.1
370727422023The interaction between MC4R gene variant (rs17782313) and dominant dietary patterns on depression in obese and overweight women: a cross sectional study.2
371401392023Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.0
375006752023Investigation the interaction of dietary fat quality indices and the MC4R gene in metabolically healthy and unhealthy overweight and obese women.1
375192512023Sex differences in weight gain, blood pressure control, and responses to melanocortin-4 receptor antagonism in offspring from lean and obese parents.0
376216502023The rs17782313 polymorphism near MC4R gene confers a high risk of obesity and hyperglycemia, while PGC1α rs8192678 polymorphism is weakly correlated with glucometabolic disorder: a systematic review and meta-analysis.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
379535872023Computational analysis of missense variants of human MC4R and childhood obesity.0

Citation

Dessen P

MC4R (melanocortin 4 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

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