Property Summary

NCBI Gene PubMed Count 24
PubMed Score 4031.10
PubTator Score 448.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Down syndrome 548
Muscle Weakness 92

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma -1.050 3.9e-03
adrenocortical adenoma -1.356 3.9e-02
adrenocortical carcinoma -2.962 5.3e-04
breast carcinoma -1.900 5.7e-03
fibroadenoma -2.900 1.9e-02
posterior fossa group B ependymoma 1.400 6.4e-05
ductal carcinoma in situ -3.000 2.7e-04
invasive ductal carcinoma -3.400 1.2e-03
psoriasis -1.200 6.6e-09

Gene RIF (21)

PMID Text
26576642 MRAP expression in human cell line results in an ACTH responsive phenotype.
26469516 Data show that co-expression with MRAPalpha, but not MRAP2, enhances MC4R constitutive activity. MRAPalpha-enhanced MC4R constitutive activity is not dependent on MC4R complex glycosylation but may result from MRAPalpha-induced changes in MC4R conformational states.
26424796 The results firmly establish that only the copy of MRAP oriented with the amino terminus on the extracellular side of the receptor is essential for Adrenocorticotropic Hormone signal transduction.
23418361 Data suggest that MRAP regulates expression of melanocortin receptors (MC1R-MC5R); MRAP is highly expressed in both zona fasciculata and undifferentiated zone of adrenal gland, sites of MC2R-mediated adrenal steroidogenesis. [REVIEW]
22419722 MRAP is positively regulated by ACTH and AngII in human adrenocortical tissues.
22366472 The data suggest that MRAPalpha is involved in MC2R targeting to the plasma membrane, while MRAPbeta may enhance ACTH-MC2R coupling to cAMP production.
21951701 A novel MRAP mutation is identified in a neonate where disruption of intron 3 splice-site results in a prematurely terminated translation product causing complete lack of adrenocorticotrophic (ADTH) hormone receptor response.
21195128 ACTH binding to MC2R stimulates PKA-dependent p44/p42(mapk) phosphorylation.
20494980 The MRAP promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells.
20427498 study shows that novel missense mutations in MRAP are associated with a milder, late onset phenotype in two families with familial glucocorticoid deficiency
19903795 No mutations in MC2R, MRAP or STAR were identified in any patient with Addison's disease
19903795 Observational study of gene-disease association. (HuGE Navigator)
19558534 Data show that tall stature is associated with mutations in MC2R but not in MRAP.
19558534 Observational study of gene-disease association. (HuGE Navigator)
19329486 identify MRAP and MRAP2 as unique bidirectional regulators of the melanocortin receptor family
18981183 MRAP not only facilitates MC2 receptor trafficking but also allows properly localized receptor to bind ACTH and consequently signal.
18818285 The transmembrane domain of MRAP is the MC2R interaction domain and a conserved N-terminal tyrosine-rich domain of MRAP is required for trafficking MC2R to the cell surface.
18077336 MRAP is the first eukaryotic membrane protein identified with an antiparallel homodimeric structure.
17893271 Familial glucocorticoid deficiency type 2, confirmed by a mutation of the MRAP gene.
17456795 MC2R-green fluorescent protein fusion transfected with either MRAPalpha or MRAPbeta was impaired both in cell membrane localization and signaling.
15654338 We identified mutations in a protein, now known as melanocortin 2 receptor accessory protein (MRAP). We show that MRAP interacts with MC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface.

AA Sequence

MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYMSWSASPQMRN      1 - 70
SPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPDQPLRQESSSTLPLGGFQTHP     71 - 140
TLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS                                          141 - 172
//

Text Mined References (24)

PMID Year Title
26576642 2016 H295R expression of melanocortin 2 receptor accessory protein results in ACTH responsiveness.
26469516 2015 hMRAP?, but Not hMRAP2, Enhances hMC4R Constitutive Activity in HEK293 Cells and This Is Not Dependent on hMRAP? Induced Changes in hMC4R Complex N-linked Glycosylation.
26424796 2015 Adrenocorticotropic Hormone (ACTH) Responses Require Actions of the Melanocortin-2 Receptor Accessory Protein on the Extracellular Surface of the Plasma Membrane.
23418361 2013 Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.
22419722 2012 Melanocortin 2 receptor-associated protein (MRAP) and MRAP2 in human adrenocortical tissues: regulation of expression and association with ACTH responsiveness.
22366472 2012 The C-terminal domains of melanocortin-2 receptor (MC2R) accessory proteins (MRAP1) influence their localization and ACTH-induced cAMP production.
21951701 2011 Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
21195128 2011 Adrenocorticotropin hormone (ACTH) effects on MAPK phosphorylation in human fasciculata cells and in embryonic kidney 293 cells expressing human melanocortin 2 receptor (MC2R) and MC2R accessory protein (MRAP)?.
20494980 2010 Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
20427498 2010 Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
20371771 2010 Regulation of G protein-coupled receptor signaling: specific dominant-negative effects of melanocortin 2 receptor accessory protein 2.
19903795 2010 Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.
19558534 2010 Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
19329486 2009 MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.
18981183 2009 Regions of melanocortin 2 (MC2) receptor accessory protein necessary for dual topology and MC2 receptor trafficking and signaling.
18818285 2009 Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.
18077336 2007 Melanocortin-2 receptor accessory protein MRAP forms antiparallel homodimers.
17893271 2007 Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
17456795 2007 Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells.
15654338 2005 Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12054497 2002 Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells.
12036298 2002 Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis.