MC2R Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MC2R |
| Official Name | melanocortin 2 receptor [Source:HGNC Symbol;Acc:HGNC:6930] |
| Ensembl ID | ENSG00000185231 |
| Bio databases IDs | |
| Aliases | melanocortin 2 receptor, adrenocorticotropic hormone receptor |
| Synonyms | ACTH-R, Acth Receptor, melanocortin 2 receptor |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MC2R often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- adrenocorticotropin receptor
- melanocortin receptor
- 7 transmembrane receptor (rhodopsin family)
- tail domain
- protein binding
- Pka phosphorylation site
- seven-transmembrane G protein-coupled receptor superfamily
Pathways
Biological processes and signaling networks where the MC2R gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- adenoma formation
- edema
- keratitis
- amyotrophic lateral sclerosis
- dermatomyositis
- asthma
- psoriatic arthritis
- serum sickness
- hereditary disorder
role in cell
- expression in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MC2R gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuropeptide signaling pathway
- G-protein coupled receptor signaling pathway
- G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
- regulation of metabolic process
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- melanocortin receptor activity
- protein binding
- corticotropin receptor activity