Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MC2R

contributors: mct/npt - updated : 12-11-2014

HGNC name	melanocortin 2 receptor (adrenocorticotropic hormone)
HGNC id	6930

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALPCA2 alopecia areata, a chronic inflammatory disease 2 HADC hypoadrenocorticism, familial
Location	18p11.21      Physical location : 13.882.042 - 13.915.535
Synonym name	ACTH receptor
	MC2 receptor
	adrenocorticotropic hormone receptor
	corticotropin receptor
Synonym symbol(s)	MCR2, ACTHR, MGC125798

DNA

TYPE	functioning gene
STRUCTURE	33.49 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000529 2 - 3652 NP_000520 33.8 297 - Artigas (2008) NM_001291911 - - 3681 NP_001278840 - 297 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland cortex zona fasciculata   highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument melanocyte

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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