InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MC2R

Summary

InnateDB Gene

IDBG-1282.6

Last Modified

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

Gene Symbol

MC2R

Gene Name

melanocortin 2 receptor (adrenocorticotropic hormone)

Synonyms

ACTHR

Species

Homo sapiens

Ensembl Gene

ENSG00000185231

Encoded Proteins

IDBP-1284

melanocortin 2 receptor (adrenocorticotropic hormone)

IDBP-229703

melanocortin 2 receptor (adrenocorticotropic hormone)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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. [provided by RefSeq, Jul 2008]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 18:13882044-13915707

Strand

Reverse strand

Band

p11.21

Transcripts

ENST00000327606	ENSP00000333821
ENST00000399821	ENSP00000382718

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:0004977	melanocortin receptor activity
GO:0004978	corticotropin receptor activity
GO:0005515	protein binding

Biological Process

GO:0001890	placenta development
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007218	neuropeptide signaling pathway
GO:0030819	positive regulation of cAMP biosynthetic process

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000045569

View Gene Order

ENSBTAG00000011038

Not yet available

Pathways

NETPATH

REACTOME

REACT_19327

G alpha (s) signalling events pathway

REACT_14819

Peptide ligand-binding receptors pathway

REACT_14828

Class A/1 (Rhodopsin-like receptors) pathway

REACT_14797

Signaling by GPCR pathway

REACT_111102

Signal Transduction pathway

REACT_19184

GPCR downstream signaling pathway

REACT_21340

GPCR ligand binding pathway

KEGG

hsa04080

Neuroactive ligand-receptor interaction pathway

INOH

PID NCI

Cross-References

SwissProt

Q01718

TrEMBL

R4GMM0

UniProt Splice Variant

Entrez Gene

4158

UniGene

Hs.248144

RefSeq

NM_000529 NM_001291911

HUGO

HGNC:6930

OMIM

607397

CCDS

CCDS11869

HPRD

IMGT

EMBL

AB065915 AK289381 AK315319 AP001086 AY225229 BC069074 BC094710 BC104169 BC104170 CH471113 X65633

GenPept

AAH69074 AAH94710 AAI04170 AAI04171 AAO67714 BAC06130 BAF82070 BAG37722 CAA46587 EAX01503

RNA Seq Atlas

4158