full name
melanocortin 2 receptor

synonyms
ACTHR, MC2R, ENSG00000185231

HGNC
HGNC:6930

Entrez Gene
Gene:4158

ENSEMBL
ENSG00000185231

location
chr: 18
start: 13882043
stop: 13915535
strand: -

OMIM
OMIM:607397: MC2R (Autosomal recessive inheritance)
OMIM:202200: Glucocorticoid deficiency, due to ACTH unresponsiveness

transcripts
NM_000529.2

pathways
Aldosterone synthesis and secretion [NCBI:1272485] [KEGG:hsa04925] [PUBMED:15044681] [PUBMED:10536682] [PUBMED:24944029] [PUBMED:25788893] [PUBMED:15026188] [PUBMED:22689262] [PUBMED:22364774] [PUBMED:18406824] [PUBMED:14645496] [PUBMED:21839803] [PUBMED:22395411] [PUBMED:23628605] [PUBMED:21962440]
Class A/1 (Rhodopsin-like receptors) [NCBI:1269545] [REACTOME:R-HSA-373076] [PUBMED:16902930]
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) [NCBI:1269004] [REACTOME:R-HSA-5579031] [PUBMED:9620771] [PUBMED:12851321] [PUBMED:12165561] [PUBMED:23252752]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
G alpha (s) signalling events [NCBI:1269575] [REACTOME:R-HSA-418555] [PUBMED:12036966]
GPCR downstream signaling [NCBI:1269574] [REACTOME:R-HSA-388396] [PUBMED:12040175]
GPCR ligand binding [NCBI:1269544] [REACTOME:R-HSA-500792] [PUBMED:15251227]
Metabolic disorders of biological oxidation enzymes [NCBI:1268977] [REACTOME:R-HSA-5579029] [PUBMED:23333322] [PUBMED:14697877] [PUBMED:24307925] [PUBMED:21308989] [PUBMED:23297354] [PUBMED:24151358] [PUBMED:24734162] [PUBMED:23632021] [PUBMED:24145751] [PUBMED:23252752]
Neuroactive ligand-receptor interaction [NCBI:83053] [KEGG:hsa04080]
Peptide ligand-binding receptors [NCBI:1269546] [REACTOME:R-HSA-375276] [PUBMED:14576899] [PUBMED:10977869] [PUBMED:16918325] [PUBMED:16847439] [PUBMED:17293890] [PUBMED:15734727] [PUBMED:12895595] [PUBMED:17604107] [PUBMED:14507421] [PUBMED:12432945] [PUBMED:16612131]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by GPCR [NCBI:1269543] [REACTOME:R-HSA-372790] [PUBMED:16902930] [PUBMED:10202136] [PUBMED:18043707]
cAMP signaling pathway [NCBI:1017634] [KEGG:hsa04024] [PUBMED:10880354] [PUBMED:9204709] [PUBMED:21693691] [PUBMED:24062645] [PUBMED:24450633] [PUBMED:21346730] [PUBMED:24613710] [PUBMED:21744067] [PUBMED:22082266] [PUBMED:16460276] [PUBMED:18176800] [PUBMED:14715909] [PUBMED:7688165] [PUBMED:24281338] [PUBMED:11117527] [PUBMED:16765984] [PUBMED:18323530] [PUBMED:18064650] [PUBMED:21852968] [PUBMED:11493633] [PUBMED:21212391] [PUBMED:15142747] [PUBMED:17077866] [PUBMED:19460777] [PUBMED:19874988] [PUBMED:16571352] [PUBMED:22022314]