MC2R
Chr 18ARmelanocortin 2 receptor
Also known as: ACTHR
The melanocortin 2 receptor (MC2R) is a G protein-coupled receptor that responds specifically to adrenocorticotropic hormone (ACTH) and regulates adrenocortical function by stimulating cortisol and corticosterone release from the adrenal cortex. Mutations cause familial glucocorticoid deficiency due to ACTH unresponsiveness, presenting with adrenal insufficiency that can manifest in the neonatal period since MC2R is required for normal fetal and neonatal adrenal gland development. This condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MC2R · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools