| Entrez Gene ID | 4160 |
|---|---|
| Official Gene Symbol | MC4R (GeneCards) |
| Full name | melanocortin 4 receptor |
| Location | 18q21.32 |
| Other ids | Vega : OTTHUMG00000132766 MIM : 155541 HGNC : HGNC:6932 Ensembl : ENSG00000166603 |
| Other names | None |
| Summary | 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] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 20209 | 4160 | MC4R | 18 | 58270609 | 58270609 | Asymptomatic | HiSeq X Ten |
| 20667 | 4160 | MC4R | 18 | 58105279 | 58105279 | Asymptomatic | HiSeq X Ten |
| 20692 | 4160 | MC4R | 18 | 59032860 | 59032860 | Cockayne syndrome | HiSeq X Ten |
| 20702 | 4160 | MC4R | 18 | 59032860 | 59032860 | Cockayne syndrome | HiSeq X Ten |
| 20753 | 4160 | MC4R | 18 | 59041032 | 59041032 | Xeroderma Pigmentosum | HiSeq X Ten |
| 20787 | 4160 | MC4R | 18 | 58840225 | 58840225 | Xeroderma Pigmentosum | HiSeq X Ten |
| 23990 | 4160 | MC4R | 18 | 59050233 | 59050233 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 23998 | 4160 | MC4R | 18 | 58305621 | 58305621 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28379 | 4160 | MC4R | 18 | 58734227 | 58734227 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |