Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

MC4R

Aliases

BMIQ20

Entrez Gene ID

4160

Gene Name

Melanocortin 4 receptor

Chromosomal Location

18q21.32

HGNC ID

6932

Summary

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]

RefSeq DNA

NG_016441.1

RefSeq mRNA

NM_005912.3

e!Ensembl

Gene	ENSG00000166603
Transcript	ENST00000299766
Protein	ENSP00000299766

SNPs

SNP	SNP ID	Associated disease	References
Val103Ile	rs2229616	Premature pubarche	15533382

Gene Ontology (GO)

Show/Hide all(15 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007188	Biological process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	8794897
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0019222	Biological process	Regulation of metabolic process	IBA	21873635
GO:0045780	Biological process	Positive regulation of bone resorption	IMP	16614075
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0004930	Molecular function	G protein-coupled receptor activity	IBA	21873635
GO:0004977	Molecular function	Melanocortin receptor activity	TAS	8794897
GO:0004980	Molecular function	Melanocyte-stimulating hormone receptor activity	IBA	21873635
GO:0004980	Molecular function	Melanocyte-stimulating hormone receptor activity	IDA	14764818
GO:0004980	Molecular function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Molecular function	Protein binding	IPI	19329486, 19743876, 21719532
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IPI	19737927
GO:0042923	Molecular function	Neuropeptide binding	IMP	15927146

Protein Information

Protein Name

Melanocortin receptor 4, MC4-R

Function

Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP).

Refseq Proteins

NP_005903.2

UniProt

P32245

PDB

2IQP, 2IQR, 2IQS, 2IQU, 2IQV, 2IQW