MC5R (melanocortin 5 receptor)

2014-11-01  

Identity

HGNC
LOCATION
18p11.21
LOCUSID
ALIAS
MC2

Other Information

Locus ID:

NCBI: 4161
MIM: 600042
HGNC: 6933
Ensembl: ENSG00000176136

Variants:

dbSNP: 4161
ClinVar: 4161
TCGA: ENSG00000176136
COSMIC: MC5R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176136ENST00000324750P33032
ENSG00000176136ENST00000589410P33032

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
204680642010Association study of 182 candidate genes in anorexia nervosa.30
194289942009Melanocortin 5 receptor activates ERK1/2 through a PI3K-regulated signaling mechanism.14
195020102009Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
174827202007Further structure-activity studies of lactam derivatives of MT-II and SHU-9119: their activity and selectivity at human melanocortin receptors 3, 4, and 5.9
185511132008Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns.9
154700822005Proteochemometric mapping of the interaction of organic compounds with melanocortin receptor subtypes.7
112866242001Expression, candidate gene, and population studies of the melanocortin 5 receptor.5
258608012015Melanocortins contribute to sequential differentiation and enucleation of human erythroblasts via melanocortin receptors 1, 2 and 5.4

Citation

Dessen P

MC5R (melanocortin 5 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68837/mc5r