MRAP (melanocortin 2 receptor accessory protein)

Gene

• Entrez ID: 56246
• Gene name: Melanocortin 2 receptor accessory protein
• Gene symbol: MRAP
• Synonyms: B27, C21orf61, FALP, FGD2, GCCD2
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358231	G>A	Pathogenic	Missense variant, initiator codon variant, intron variant
rs566223651	G>A,C,T	Pathogenic	Splice donor variant, intron variant
rs1476574441	G>-	Pathogenic	Intron variant, splice donor variant
rs1555897462	A>G	Pathogenic	Intron variant, initiator codon variant, missense variant
rs1569025178	ACGCCTC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18077336, 18840636, 19151134, 19329486, 20371771, 28298427, 32814053
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	19329486
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19329486
GO:0016021	Component	Integral component of membrane	IEA
GO:0030545	Function	Receptor regulator activity	IBA	21873635
GO:0031780	Function	Corticotropin hormone receptor binding	IBA	21873635
GO:0031780	Function	Corticotropin hormone receptor binding	IPI	19329486
GO:0031781	Function	Type 3 melanocortin receptor binding	IBA	21873635
GO:0031781	Function	Type 3 melanocortin receptor binding	IPI	19329486
GO:0031782	Function	Type 4 melanocortin receptor binding	IBA	21873635
GO:0031782	Function	Type 4 melanocortin receptor binding	IPI	19329486
GO:0031783	Function	Type 5 melanocortin receptor binding	IBA	21873635
GO:0031783	Function	Type 5 melanocortin receptor binding	IPI	19329486
GO:0042802	Function	Identical protein binding	IPI	18077336, 20371771
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0070996	Function	Type 1 melanocortin receptor binding	IBA	21873635
GO:0070996	Function	Type 1 melanocortin receptor binding	IPI	19329486
GO:0072659	Process	Protein localization to plasma membrane	IBA	21873635
GO:0072659	Process	Protein localization to plasma membrane	IDA	19329486
GO:0106070	Process	Regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0106071	Process	Positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486
GO:0106072	Process	Negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	IDA	19329486

Other IDs

• MIM: 609196
• HGNC: 1304
• e!Ensembl: ENSG00000170262

Protein

• UniProt ID: Q8TCY5
• Protein name: Melanocortin-2 receptor accessory protein (B27) (Fat cell-specific low molecular weight protein) (Fat tissue-specific low MW protein)
• Protein function: Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15183	MRAP	1 → 89	Melanocortin-2 receptor accessory protein family	Family

• Sequence:

  MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYM
  SWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPD
  QPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS

• Sequence length: 172

Pathways

KEGG:

Cortisol synthesis and secretion
Cushing syndrome

Associated diseases

Disease name	Disease term	References
	X-linked Adrenal Hypoplasia
	Anorexia
	Azoospermia
	Congenital Hypothyroidism
	Cryptorchidism
	Familial Glucocorticoid Deficiency Type 1	17893271, 20427498, 15654338
	Familial Glucocorticoid Deficiency Type 2	15654338
	Familial glucocorticoid deficiency
	Hypernatriuria
	Hypertrophic Cardiomyopathy
	Hypoglycemic coma
	Hypoglycemic seizures
	Intellectual Disability
	Precocious Puberty
	Quadriplegia
	Testicular adrenal rest tumor