MC2R

Chr 18p11.21

melanocortin 2 receptor

Aliases:: ACTHR
MANE:: ENST00000327606.4

OMIM: 607397 ↗NCBI: 4158 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MC2R · Q01718

v62025-08-01

Predicted Aligned Error matrix for MC2R — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.4/ 100

Confident

297 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)42%
Low(50–70)5%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

familial glucocorticoid deficiency
0.80
multiple sclerosis
0.57
infantile spasms
0.48
hereditary disease
0.41
diabetic kidney disease
0.39
Cytomegalic congenital adrenal hypoplasia
0.38
adrenocortical insufficiency
0.37
ulcerative colitis
0.37
essential hypertension
0.37
nephrotic syndrome
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Adrenocorticotropic hormone receptor

G protein-coupled receptor for corticotropin/ACTH, primarily expressed in adrenal cortex where it plays a key role in the regulation of adrenocortical function (PubMed:1325670, PubMed:17596328, PubMed:36588120). Upon activation, couples to G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway, the MAPK cascade as well as the PKA pathway, leading to steroidogenic factor 1/NR5A1-mediated transcriptional activation (PubMed:1325670). Activation by ACTH facilitates the release of adrenal glucocorticoids, including cortisol and corticosterone (PubMed:12213892, PubMed:8636348). In addition, MC2R is required for fetal and neonatal adrenal gland development (By similarity)