MC2R
entrez
4158
canonical
uniprot
Q01718
canonical
ensembl
ENSG00000185231
resolver
ensp
ENSP00000333821
resolver
ensp
ENSP00000616382
resolver
ensp
ENSP00000616383
resolver
ensp
ENSP00000616384
resolver
enst
ENST00000327606
resolver
enst
ENST00000946323
resolver
enst
ENST00000946324
resolver
enst
ENST00000946325
resolver
genesymbol
MC2R
resolver
genesymbol_syn
ACTHR
resolver
hgnc
HGNC:6930
resolver
uniprot
A8K016
resolver
uniprot
Q3MI45
resolver
uniprot
Q504X6
resolver
uniprot_entry
ACTHR_HUMAN
resolver
uniprot_sec
A8K016
resolver
uniprot_sec
Q3MI45
resolver
uniprot_sec
Q504X6
resolver
amino_acid_sequence
MKHIINSYENINNTARNNSDCPRVVLPEEIFFTISIVGVLENLIVLLAVFKNKNLQAPMYFFICSLAISDMLGSLYKILENILIILRNMGYLKPRGSFETTADDIIDSLFVLSLLGSIFSLSVIAADRYITIFHALRYHSIVTMRRTVVVLTVIWTFCTGTGITMVIFSHHVPTVITFTSLFPLMLVFILCLYVHMFLLARSHTRKISTLPRANMKGAITLTILLGVFIFCWAPFVLHVLLMTFCPSNPYCACYMSLFQVNGMLIMCNAVIDPFIYAFRSPELRDAFKKMIFCSRYW
uniprot
proteins
disease_involvement
DISEASE: Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]: 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. {ECO:0000269|PubMed:10971458, ECO:0000269|PubMed:12213892, ECO:0000269|PubMed:8094489, ECO:0000269|PubMed:8227361, ECO:0000269|PubMed:8636348}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q64326, ECO:0000269|PubMed:12213892, ECO:0000269|PubMed:1325670, ECO:0000269|PubMed:17596328, ECO:0000269|PubMed:36588120, ECO:0000269|PubMed:8636348}.
uniprot
proteins
mass_dalton
33927
uniprot
proteins
mutagenesis
MUTAGEN 21; /note="C->S: Significantly reduced ACTH binding."; /evidence="ECO:0000269|PubMed:17596328"; MUTAGEN 245; /note="C->S: Significantly reduced ACTH binding."; /evidence="ECO:0000269|PubMed:17596328"; MUTAGEN 251; /note="C->S: Significantly reduced ACTH binding."; /evidence="ECO:0000269|PubMed:17596328"; MUTAGEN 253; /note="C->S: Significantly reduced ACTH binding."; /evidence="ECO:0000269|PubMed:17596328
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by MGRN1 that may be involved in post-endocytic trafficking and/or degradation of internalized receptor. {ECO:0000269|PubMed:21862608}.
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
10971458
uniprot
proteins
pubmed
12213892
uniprot
proteins
pubmed
1325670
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15654338
uniprot
proteins
pubmed
17596328
uniprot
proteins
pubmed
19329486
uniprot
proteins
pubmed
19535343
uniprot
proteins
pubmed
20108423
uniprot
proteins
pubmed
20371771
uniprot
proteins
pubmed
21862608
uniprot
proteins
pubmed
36588120
uniprot
proteins
pubmed
8094489
uniprot
proteins
pubmed
8227361
uniprot
proteins
pubmed
8463333
uniprot
proteins
pubmed
8636348
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19535343, ECO:0000269|PubMed:21862608}; Multi-pass membrane protein {ECO:0000269|PubMed:36588120}.
uniprot
proteins
transmembrane_region
TRANSMEM 28..47; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7"; TRANSMEM 61..86; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7"; TRANSMEM 100..126; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7"; TRANSMEM 147..172; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7"; TRANSMEM 173..195; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7"; TRANSMEM 215..241; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7"; TRANSMEM 257..279; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:36588120, ECO:0007744|PDB:8GY7
uniprot
proteins