Aliases for MC2R Gene
External Ids for MC2R Gene
Previous GeneCards Identifiers for MC2R Gene
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]
GeneCards Summary for MC2R Gene
MC2R (Melanocortin 2 Receptor) is a Protein Coding gene. Diseases associated with MC2R include Glucocorticoid Deficiency 1 and Familial Glucocorticoid Deficiency. Among its related pathways are Aldosterone synthesis and secretion and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and corticotropin receptor activity. An important paralog of this gene is MC4R.
UniProtKB/Swiss-Prot for MC2R Gene
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).
Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.