Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4160
MIM: 155541
HGNC: 6932
Ensembl: ENSG00000166603
Variants:
dbSNP: 4160
ClinVar: 4160
TCGA: ENSG00000166603
COSMIC: MC4R
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000166603 | ENST00000299766 | P32245 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10026 | aripiprazole | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA153906318 | Autism Spectrum Disorder | Disease | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA162565877 | amisulpride | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA163518919 | paliperidone | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA166123368 | schizoaffective disorder | Disease | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | 22310352, 22566560, 23277235, 23799528, 23920449, 27217270 | |
| PA449061 | clozapine | Chemical | ClinicalAnnotation | associated | PD | 22310352, 22566560, 23799528, 23920449, 27217270 | |
| PA449841 | haloperidol | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA450688 | olanzapine | Chemical | ClinicalAnnotation | associated | PD | 22310352, 22566560, 23799528, 23920449, 27217270 | |
| PA451201 | quetiapine | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA451257 | risperidone | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA451974 | ziprasidone | Chemical | ClinicalAnnotation | associated | PD | 22566560, 23799528, 23920449, 27217270 | |
| PA452233 | antipsychotics | Chemical | ClinicalAnnotation, Literature, MultilinkAnnotation | associated | PD | 22310352, 23277235, 23920449, 24885933 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37820740 | 2024 | Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity. | 0 |
| 38197679 | 2024 | Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity. | 0 |
| 38528040 | 2024 | Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa. | 1 |
| 37820740 | 2024 | Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity. | 0 |
| 38197679 | 2024 | Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity. | 0 |
| 38528040 | 2024 | Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa. | 1 |
| 36210601 | 2023 | Functional alterations of two novel MC4R mutations found in Argentinian pediatric patients with early onset obesity. | 0 |
| 36757449 | 2023 | Genetic association of the rs17782313 polymorphism with antipsychotic-induced weight gain. | 1 |
| 37072742 | 2023 | The interaction between MC4R gene variant (rs17782313) and dominant dietary patterns on depression in obese and overweight women: a cross sectional study. | 2 |
| 37140139 | 2023 | Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery. | 0 |
| 37500675 | 2023 | Investigation the interaction of dietary fat quality indices and the MC4R gene in metabolically healthy and unhealthy overweight and obese women. | 1 |
| 37519251 | 2023 | Sex differences in weight gain, blood pressure control, and responses to melanocortin-4 receptor antagonism in offspring from lean and obese parents. | 0 |
| 37621650 | 2023 | The 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 |
| 37716291 | 2023 | Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study. | 0 |
| 37953587 | 2023 | Computational 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
