MC4R Chromosome 18
Melanocortin 4 receptor
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What This Gene Does
The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Melanocortin receptors
Locus Type
gene with protein product
Location
18q21.32
Ensembl
ENSG00000166603
Associated Conditions (10)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R-related disorder
Early onset severe obesity
Obesity
Obesity due to melanocortin 4 receptor deficiency
Monogenic diabetes
Inherited obesity
autosomal dominant
Schizophrenia
See cases
Key Variants
RS121913560
Conflicting classifications of pathogenicity
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder, Early onset severe obesity
Health Risk
RS121913561
Conflicting classifications of pathogenicity
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity, MC4R-related disorder
Health Risk
RS121913563
Conflicting classifications of pathogenicity
Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
Health Risk
RS121913567
Conflicting classifications of pathogenicity
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
Health Risk
RS13447325
Conflicting classifications of pathogenicity
Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity
Health Risk
RS13447326
Conflicting classifications of pathogenicity
Health Risk
RS13447329
Conflicting classifications of pathogenicity
Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
Health Risk
RS13447331
Conflicting classifications of pathogenicity
Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity due to melanocortin 4 receptor deficiency
Health Risk
RS138281308
Conflicting classifications of pathogenicity
Obesity, Monogenic diabetes, Inherited obesity
Health Risk
RS140773238
Conflicting classifications of pathogenicity
Obesity, Obesity
Health Risk
RS142837166
Conflicting classifications of pathogenicity
MC4R-related disorder, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Early onset severe obesity
Health Risk
RS146056286
Conflicting classifications of pathogenicity
Obesity, Obesity
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769342968 | Health Risk | Pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS777077280 | Health Risk | Pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS895704914 | Health Risk | Pathogenic | MC4R-related disorder, MC4R-related disorder |
| RS1057517991 | Health Risk | Pathogenic/Likely pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder, Early onset severe obesity |
| RS121913564 | Health Risk | Pathogenic/Likely pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity, Obesity due to melanocortin 4 receptor deficiency |
| RS1226923092 | Health Risk | Pathogenic/Likely pathogenic | Obesity due to melanocortin 4 receptor deficiency, Obesity due to melanocortin 4 receptor deficiency |
| RS13447332 | Health Risk | Pathogenic/Likely pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder, Obesity due to melanocortin 4 receptor deficiency |
| RS13447333 | Health Risk | Pathogenic/Likely pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS13447339 | Health Risk | Pathogenic/Likely pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity, autosomal dominant |
| RS193922687 | Health Risk | Pathogenic/Likely pathogenic | Obesity, Obesity due to melanocortin 4 receptor deficiency, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS2143966828 | Health Risk | Pathogenic/Likely pathogenic | MC4R-related disorder, Obesity due to melanocortin 4 receptor deficiency, MC4R-related disorder |
| RS369841551 | Health Risk | Pathogenic/Likely pathogenic | Obesity, Monogenic diabetes, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS370479598 | Health Risk | Pathogenic/Likely pathogenic | Obesity, autosomal dominant, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS746241281 | Health Risk | Pathogenic/Likely pathogenic | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| RS747681609 | Health Risk | Pathogenic/Likely pathogenic | Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity due to melanocortin 4 receptor deficiency |