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FLASH GENE
Symbol MC2R contributors: mct/npt - updated : 12-11-2014
HGNC name melanocortin 2 receptor (adrenocorticotropic hormone)
HGNC id 6930
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 3652 33.8 297 - Artigas (2008)
- - 3681 - 297 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal glandcortexzona fasciculata highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentmelanocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor
  • C-terminus involved in cell surface expression, and loss of the C terminus impairs cell surface expression and ACTH sensitivity but does not disrupt interaction of MC2R with MRAP
  • HOMOLOGY
    Homologene
    FAMILY
  • G protein coupled receptor superfamily
  • melanocortin receptor family
  • CATEGORY signaling hormone , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • MC2R was retained in the endoplasmic reticulum in the absence of MRAP and targeted to the plasma membrane with MRAP
  • basic FUNCTION
  • melanocortin receptor 2 or adrenocorticotropin (ACTH) receptor
  • role of MGRN1 in the adrenal relates to the trafficking and/or degradation of the MC2R
  • expression of MC2R and MRAP in the undifferentiated zone of adrenal gland would support the notion that ACTH may play an important role in adrenal cell differentiation and maintenance
  • in the absence of MRAP, MC2R cannot translocate from the endoplasmic reticulum to the plasma membrane and ACTH-induced signaling is extinguished
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ACTH is the only melanocortin ligand that can activate the ACTH receptor MC2R
  • in the presence of MGRN1 the MC2R is ubiquitinated and, after ACTH stimulation, evidence of multi-monoubiquitination appears
  • MRAP expression enhanced MC2R cell-surface expression as well as concentration-dependent cAMP accumulation
  • MRAP2 transports the MC2R to the cell surface but might prevent activation
  • requires melanocortin receptor accessory protein 1 (MRAP) for formation of active receptor and for its transport to the cell membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HADC , ALPCA2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in adrenocortical carcinoma
    Susceptibility
  • to variation of responsiveness to ACTH therapy in infantile spasms (IS)
  • Variant & Polymorphism other
  • haplotype TCCT in MC2R promoter significantly led to increased MC2R expression and strong responses to ACTH, providing evidence of the molecular mechanism of ACTH therapy in IS
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS