MC3R Back

melanocortin 3 receptor

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NCBI Description of MC3R
This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. Sequence Note: A downstream start codon is selected for this RefSeq based on conservation with homologs and for consistency with other family members, including the human melanocortin 4 and melanocortin 5 receptors. The use of an alternative upstream start codon, which is specific to primate species, would increase the protein length from 323 aa to 360 aa. This longer protein is referred to in the literature, including PMIDs 15292330 and 8463333.

Community Annotation of MC3R Add / Edit MC3R: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MC3R is highly significantly mutated in
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MC3R is significantly mutated in
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MC3R is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for MC3R