Property Summary

NCBI Gene PubMed Count 24
Grant Count 218
R01 Count 107
Funding $78,314,340.37
PubMed Score 4031.10
PubTator Score 448.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (59)

Disease Z-score Confidence
Ankylosing spondylitis 138 8.48 4.0
Uveitis 103 7.316 3.7
Arthropathy 34 7.219 3.6
Arthritis 248 6.946 3.5
Enthesopathy 4 6.166 3.1
Psoriatic arthritis 83 6.118 3.1
Urethritis 10 6.071 3.0
Iritis 9 5.565 2.8
psoriasis 6,685 5.43 2.7
Inflammatory bowel disease 142 5.339 2.7
Synovitis 38 4.88 2.4
Balanitis 4 4.85 2.4
Whipple disease 5 4.839 2.4
Conjunctivitis 18 4.763 2.4
Fuchs' heterochromic uveitis 2 4.597 2.3
Vasculitis 64 4.593 2.3
Tendinitis 13 4.514 2.3
Pustulosis of palm and sole 3 4.486 2.2
Chlamydia 18 4.435 2.2
Hypersensitivity reaction type II diseas... 235  4.412 2.2
Chorioretinitis 6 4.371 2.2
SAPHO syndrome 10 4.229 2.1
sarcoidosis 358 4.156 2.1
Aortic valve insufficiency 22 4.128 2.1
Scleritis 5 4.071 2.0
Aortitis 4 3.908 2.0
Hyperostosis 16 3.809 1.9
Macular retinal edema 11 3.796 1.9
Toxoplasmosis 16 3.724 1.9
Retinitis 9 3.668 1.8
Plantar fasciitis 5 3.651 1.8
Diarrhea 155 3.611 1.8
Diffuse idiopathic skeletal hyperostosis 6 3.585 1.8
Rheumatic fever 16 3.576 1.8
Periostitis 5 3.527 1.8
Cataract 104 3.297 1.6
Frozen shoulder 6 3.227 1.6
Axial osteomalacia 1 3.207 1.6
Human immunodeficiency virus infectious ... 92  3.124 1.6
Endophthalmitis 10 3.076 1.5
Ochronosis 4 3.047 1.5
Cervicitis 6 3.043 1.5
Choroiditis 5 3.034 1.5
Optic neuritis 9 3.032 1.5
Osteomyelitis 20 3.029 1.5
Band keratopathy 4 3.021 1.5
Dysentery 13 3.017 1.5
tuberculosis 1,557 3.01 1.5
Down syndrome 548
GLUCOCORTICOID DEFICIENCY 2 1
Muscle Weakness 92
adrenocortical adenoma 134
adrenocortical carcinoma 1,427
breast carcinoma 1,614
ductal carcinoma in situ 1,745
fibroadenoma 557
invasive ductal carcinoma 2,950
osteosarcoma 7,933
posterior fossa group B ependymoma 1,530

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma -1.050 0.004
adrenocortical adenoma -1.356 0.039
adrenocortical carcinoma -2.962 0.001
breast carcinoma -1.900 0.006
fibroadenoma -2.900 0.019
posterior fossa group B ependymoma 1.400 0.000
ductal carcinoma in situ -3.000 0.000
invasive ductal carcinoma -3.400 0.001
psoriasis -1.200 0.000

Synonym

Accession Q8TCY5 Q5EBR3 Q8TDB7 Q8WXC1 Q8WXC2
Symbols B27
FALP
FGD2
GCCD2
C21orf61

Gene

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
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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.
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