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 (Adrenocorticotropic Hormone)) is a Protein Coding gene. Diseases associated with MC2R include familial glucocorticoid deficiency and glucocorticoid deficiency, due to acth unresponsiveness. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include G-protein coupled receptor activity and corticotropin receptor activity. An important paralog of this gene is LPAR1.
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.