MC4R Gene Summary [Human]
The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | MC4R |
| Official Name | melanocortin 4 receptor [Source:HGNC Symbol;Acc:HGNC:6932] |
| Ensembl ID | ENSG00000166603 |
| Bio databases IDs | |
| Aliases | melanocortin 4 receptor |
| Synonyms | BMIQ20, melanocortin 4 receptor, Pkcp |
| 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 MC4R 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
- ubiquitin protein ligase binding
- extracellular domain
- hormone binding
- intracellular loop
- melanocyte stimulating hormone receptor
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- polypeptide hormone binding
- melanocortin receptor
- neuropeptide binding
- cytoplasmic domain
- transmembrane domain
- extracellular loop
- 7 transmembrane receptor (rhodopsin family)
- loop domain
Pathways
Biological processes and signaling networks where the MC4R 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
- non-insulin-dependent diabetes mellitus
- morbid obesity
- diabetes mellitus
- melanocortin-4 receptor deficiency
- atherosclerosis
- monogenic obesity
- syndromic obesity
- obesity
- early-onset obesity
- coronary artery disease
regulated by
role in cell
- number
- expression in
- transcription in
- phosphorylation in
- activation in
- activation
- cellular infiltration by
- neurotransmission by
- accumulation in
- calcium response
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
- intracellular compartment
- cell surface
- cell borders
- intracellular space
- intracellular membranes
- membrane surface
- cellular membrane
- Nucleus
- primary cilia
- dendritic spines
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MC4R gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to insulin stimulus
- insulin secretion
- negative regulation of feeding behavior
- positive regulation of bone resorption
- energy reserve metabolic process
- regulation of metabolic process
- feeding behavior
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- regulation of grooming behavior
- diet induced thermogenesis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- melanocortin receptor activity
- neuropeptide binding
- protein binding
- ubiquitin protein ligase binding
- peptide hormone binding
- melanocyte-stimulating hormone receptor activity