InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MC2R

Summary

InnateDB Protein

IDBP-229703.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MC2R

Protein Name

melanocortin 2 receptor (adrenocorticotropic hormone)

Synonyms

ACTHR;

Species

Homo sapiens

Ensembl Protein

ENSP00000382718

InnateDB Gene

IDBG-1282 (MC2R)

Protein Structure

UniProt Annotation

Function

Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP). {ECO:0000269PubMed:19329486, ECO:0000269PubMed:20371771}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]: A rare, potentially lethal, 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:0000269PubMed:10971458, ECO:0000269PubMed:12213892, ECO:0000269PubMed:8094489, ECO:0000269PubMed:8227361, ECO:0000269PubMed:8636348}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Melanocytes and corticoadrenal tissue.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0004978	corticotropin receptor activity

Biological Process

GO:0007186	G-protein coupled receptor signaling pathway
GO:0007218	neuropeptide signaling pathway

Cellular Component

GO:0016021

integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000276 G protein-coupled receptor, rhodopsin-like
IPR001168 Adrenocorticotrophin (ACTH) receptor
IPR001671 Melanocortin/ACTH receptor
IPR017452 GPCR, rhodopsin-like, 7TM
IPR019424 7TM GPCR, olfactory receptor/chemoreceptor Srsx

PFAM

PF00001
PF10320

PRINTS

PR00237
PR00520
PR00534

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

PhosphoSite