• Gene id: 4158

Gene Summary

• Gene Symbol: MC2R   Gene   UCSC   Ensembl
• Aliases: ACTHR
• Gene name: melanocortin 2 receptor
• Alternate names: adrenocorticotropic hormone receptor, ACTH receptor, MC2 receptor, adrenocorticotropin receptor, corticotropin receptor, melanocortin 2 receptor (adrenocorticotropic hormone),
• Gene location: 18p11.21 (34343135: 34341718)     Exons: 2     NC_000015.10
• Gene summary(Entrez): 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 activa
• OMIM: 607397

Protein Summary

• Protein general information: Q01718  
  • Name: Adrenocorticotropic hormone receptor (ACTH receptor) (ACTH R) (Adrenocorticotropin receptor) (Melanocortin receptor 2) (MC2 R)
  • Length: 297  
  • Mass: 33927
  • Tissue specificity: Melanocytes and corticoadrenal tissue.
• Sequence:

  MKHIINSYENINNTARNNSDCPRVVLPEEIFFTISIVGVLENLIVLLAVFKNKNLQAPMYFFICSLAISDMLGSL
  YKILENILIILRNMGYLKPRGSFETTADDIIDSLFVLSLLGSIFSLSVIAADRYITIFHALRYHSIVTMRRTVVV
  LTVIWTFCTGTGITMVIFSHHVPTVITFTSLFPLMLVFILCLYVHMFLLARSHTRKISTLPRANMKGAITLTILL
  GVFIFCWAPFVLHVLLMTFCPSNPYCACYMSLFQVNGMLIMCNAVIDPFIYAFRSPELRDAFKKMIFCSRYW

• Structural information:
  • Interpro: IPR001168  IPR000276  IPR017452  IPR001671  
  • Prosite: PS00237 PS50262
  • DIP: 29949
  • STRING: ENSP00000333821
• Other Databases: GeneCards:  MC2R  Malacards:  MC2R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019222	regulation of metabolic process	IBA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0004977	melanocortin receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0004978	corticotropin receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0004978	corticotropin receptor activity	TAS	molecular function
GO:0004977	melanocortin receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001890	placenta development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0007218	neuropeptide signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04934	Cushing syndrome
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Adrenal carcinoma	KEGG:H00033
Familial glucocorticoid deficiency	KEGG:H00256
Cushing syndrome	KEGG:H01431
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Adrenal carcinoma	KEGG:H00033
Familial glucocorticoid deficiency	KEGG:H00256
West syndrome	PMID:19024088
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq