MC2R Chromosome 18
Melanocortin 2 receptor
Upload your DNA to see your personal genotypes for variants in MC2R.
What This Gene Does
MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Melanocortin receptors
Locus Type
gene with protein product
Location
18p11.21
Ensembl
ENSG00000185231
Associated Conditions (4)
Glucocorticoid deficiency 1
Glucocorticoid Deficiency
MC2R-related disorder
Inborn genetic diseases
Key Variants
RS137893541
Conflicting classifications of pathogenicity
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
RS138421793
Conflicting classifications of pathogenicity
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
RS141349908
Conflicting classifications of pathogenicity
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
RS28926178
Conflicting classifications of pathogenicity
Glucocorticoid Deficiency, Glucocorticoid deficiency 1, MC2R-related disorder
Health Risk
RS369830440
Conflicting classifications of pathogenicity
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
RS104894659
Likely pathogenic
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
RS1226345778
Likely pathogenic
Glucocorticoid Deficiency, Glucocorticoid Deficiency
Health Risk
RS1351304647
Likely pathogenic
Health Risk
RS139218324
Likely pathogenic
Glucocorticoid Deficiency, Glucocorticoid deficiency 1, Glucocorticoid Deficiency
Health Risk
RS1555619429
Likely pathogenic
Glucocorticoid Deficiency, Glucocorticoid Deficiency
Health Risk
RS752791815
Likely pathogenic
Health Risk
RS761911005
Likely pathogenic
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137893541 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS138421793 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS141349908 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS28926178 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid Deficiency, Glucocorticoid deficiency 1, MC2R-related disorder |
| RS369830440 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS104894659 | Health Risk | Likely pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS1226345778 | Health Risk | Likely pathogenic | Glucocorticoid Deficiency, Glucocorticoid Deficiency |
| RS1351304647 | Health Risk | Likely pathogenic | — |
| RS139218324 | Health Risk | Likely pathogenic | Glucocorticoid Deficiency, Glucocorticoid deficiency 1, Glucocorticoid Deficiency |
| RS1555619429 | Health Risk | Likely pathogenic | Glucocorticoid Deficiency, Glucocorticoid Deficiency |
| RS752791815 | Health Risk | Likely pathogenic | — |
| RS761911005 | Health Risk | Likely pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS768093045 | Health Risk | Likely pathogenic | — |
| RS104894656 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS104894657 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS104894658 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid Deficiency, Glucocorticoid deficiency 1 |
| RS104894661 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS104894662 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS1208417750 | Health Risk | Pathogenic | Glucocorticoid Deficiency, Glucocorticoid Deficiency |
| RS1555619372 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS1555619377 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS1555619406 | Health Risk | Pathogenic | Glucocorticoid Deficiency, Glucocorticoid deficiency 1, Glucocorticoid Deficiency |
| RS1555619430 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid Deficiency, Glucocorticoid deficiency 1 |
| RS199950178 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS267607231 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS28940892 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS749254899 | Health Risk | Pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS762692123 | Health Risk | Pathogenic | Glucocorticoid Deficiency, Glucocorticoid Deficiency |
| RS886041294 | Health Risk | Pathogenic | — |
| RS104894660 | Health Risk | Pathogenic/Likely pathogenic | Glucocorticoid deficiency 1, Glucocorticoid Deficiency, Glucocorticoid deficiency 1 |
| RS1256103643 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1567895448 | Health Risk | Pathogenic/Likely pathogenic | Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS758709668 | Health Risk | Pathogenic/Likely pathogenic | Glucocorticoid deficiency 1, Inborn genetic diseases, Glucocorticoid deficiency 1 |