MC2R

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]

Full Name

Melanocortin 2 Receptor

Function

Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).

Biological Process

Adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: BHF-UCL
G protein-coupled receptor signaling pathway Source: ProtInc
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
Regulation of metabolic process Source: GO_Central

Cellular Location

Cell membrane

Involvement in disease

Glucocorticoid deficiency 1 (GCCD1):
A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.

Topology

Extracellular: 1-23
Helical: 24-49
Cytoplasmic: 50-58
Helical: 59-79
Extracellular: 80-104
Helical: 105-126
Cytoplasmic: 127-147
Helical: 148-168
Extracellular: 169-180
Helical: 181-199
Cytoplasmic: 200-217
Helical: 218-244
Extracellular: 245-256
Helical: 257-278
Cytoplasmic: 279-297