MC2R Antibody

1. Results show regulation of melanocortin receptors MC2R, MC3R and MC4R gene expressions in CD8(+) cytotoxic T-lymphocytes and CD19(+) B lymphocytes in rheumatoid arthritis (RA) treated with tumor necrosis factor-alpha (TNF-alpha) inhibitor adalimumab. PMID: 28426141
2. melanocortin receptors MC2R, MC3R and MC5R are most abundantly expressed in glandular epithelium of the endometrium PMID: 26223677
3. the MC2R gene may contribute to the development of intracerebral hemorrhage. PMID: 26115626
4. The A allele at rs1941088 in the MC2R gene, which encodes the adrenocorticotropic hormone (corticotropin, ACTH) receptor, is associated with a low cortisol response in critically ill children. PMID: 25055195
5. results suggest that Phe(7) in ACTH plays an important role in ligand selectivity and that the third transmembrane domain of MC2R is crucial for ACTH selectivity and potency PMID: 25605722
6. MC2R overexpression is associated with myelolipomas. PMID: 24884994
7. The patient with familial glucocorticoid deficiency was found to be homozygous for a novel mutation in the melanocortin-2 receptor gene (635insC, I154H). PMID: 24224542
8. Our observations suggest that MC2R is involved in prostate carcinogenesis and that targeting MC2R signaling may provide a novel avenue in prostate carcinoma treatment. PMID: 22842514
9. The ACTHR gene -2T>C variant may be one important factor that influences stress perception of patients with alopecia areata. PMID: 23231661
10. Significant differences in the gene expression of aldosterone synthase and adrenocorticotropic hormone receptor distinguishes adrenal neoplasms from primary aldosteronism. PMID: 23023242
11. GRA5556G, GRA5556G, GAGG4534/4536AAAG polymorphisms and ACTHR promoter T-2C variants might be associated with quantitative trait of stress. PMID: 22357529
12. No significant difference was found between plasma lipid and glucose levels and various GR and ACTHR genotypes. PMID: 22487832
13. Intracellular Ser and Thr (S/T) residues of MC2R were found to play important roles not only in plasma membrane targeting and function but also in promoting receptor internalization. PMID: 21920850
14. Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R). PMID: 21778684
15. The MC2R/MRAP2 complex requires much higher concentrations of ACTH to activate compared with the MC2R/MRAP complex. PMID: 21367968
16. C-terminal tail of the MC(4) receptor with the corresponding regions from the MC(2) receptor resulted in MRAP-dependent signaling PMID: 21211532
17. ACTH binding to MC2R stimulates PKA-dependent p44/p42(mapk) phosphorylation. PMID: 21195128
18. MC2R expression is aberrant in alopecia areata (AA). A deficit in ACTH/MC2R activity may play an important role in the pathophysiology of AA. PMID: 20590821
19. Loss of the C terminus of MC2R impairs cell surface expression and ACTH sensitivity but does not disrupt interaction of MC2R with melanocortin receptor accessory protein. PMID: 20962024
20. Data show that tall stature is associated with mutations in MC2R but not in MRAP. PMID: 19558534
21. Includes the study of a polymorphic upstream ORF in this gene, and shows that it functions to reduce protein levels by ~37%. PMID: 19372376
22. The results showed that the haplotype TCCT in MC2R promoter significantly led to increased MC2R expression and strong responses to adrenocorticotropin hormone. PMID: 20042918
23. Absence of MC2R N-glycosylation abrogates to a large extent MC2R cell surface expression in the absence of accessory proteins, whereas when MC2R is N-glycosylated, it can be expressed at the plasma membrane without assistance. PMID: 20022931
24. No mutations in MC2R, MRAP or STAR were identified in any patient with Addison's disease PMID: 19903795
25. findings suggest a novel mechanism is involved in the constitutive activation of the melanocortin 2 receptor in which failure of desensitization appears to be associated with enhanced basal receptor activity PMID: 12456795
26. Cyclic AMP-induced regulation of transcriptional activity of gene achieved through two SF1 binding elements in proximal promoter. Regulation by angiotensin II by two AP1 binding sites. Region in promoter responsible for tissue-specific gene expression. PMID: 12530626
27. ACTH feedback loop in pituitary. Loss of expression of ACTH-R in corticotroph adenomas in Cushing's disease may play role in resistance to feedback of pituitary-adrenal axis. PMID: 14671214
28. Study of two mutations in the same allele of MC2R associated with clinical hypersensitivity to ACTH shows that each alone produces an inactive receptor, but together lead to a receptor with a highly significant elevation in constitutive activity PMID: 15062562
29. Data show that an E-box is involved in the repression of melanocortin 2 receptor gene expression in granulosa cells through interactions with several factors. PMID: 15171714
30. We describe an ACTH receptor promoter polymorphism that results in lower promoter activity in vitro and is associated with lower cortisol secretion to prolonged ACTH stimulation in vivo. Might influence cortisol homeostasis under stress conditions. PMID: 15240582
31. DAX-1 is a major repressor of ACTH-R gene expression in vitro and in vivo. PMID: 15879363
32. Specific factors, missing in cells which do not express any melanocortin receptor, are involved in the correct addressing of human MC2R to the cell membrane. PMID: 15982783
33. Genetic variations within ACTH receptor promoter result in decreased DHEA secretion. We might have identified one of the genetic factors responsible for variation in ACTH-dependent DHEA secretion. PMID: 16260430
34. PKA and protein kinase C act synergistically to induce hMC2R desensitization, but only PKA is essential for receptor internalization PMID: 16497811
35. MC2R mutations were found in patients diagnosed with salt-losing forms of adrenal hypoplasia; these changes represent severely disruptive loss-of-function mutations including the first reported homozygous frameshift mutation PMID: 17223989
36. MC2R-green fluorescent protein fusion transfected with either MRAPalpha or MRAPbeta was impaired both in cell membrane localization and signaling. PMID: 17456795
37. Testicular adrenal rest tumors produce adrenal-specific steroids and express adrenal-specific enzymes and ACTH and AII receptors, confirming the strong resemblance with adrenal tissue. PMID: 17595257
38. Transcription factors of the CREB/CREM/ATF family have a moderate effect on human MC2-R promoter activity, but seem to play a minor role in transmitting stimulation of the cAMP pathway to increased MC2-R expression. PMID: 17712720
39. Results indicate that ACTH1-16 is the minimal peptide required for hMC2R binding and signaling. PMID: 17877367
40. Corticotrophin-releasing hormone induces ACTHR receptor as potently as ACTH during late gestation. PMID: 17959886
41. results do not support an involvement of the -2 CTC to CCC ACTH receptor promoter polymorphism in somatoform disorders PMID: 18197087
42. The MC2R promoter polymorphism modulates the hypothalamo-pituitary-adrenal axis in children and may play a role in altered regulation of adrenarche. PMID: 18356748
43. Significant differences in genotype frequency among ethnic groups studied were found for each of the six variants analyzed. the allele -184A with a protective effect from heroin addiction in Hispanics. PMID: 18359160
44. two mutations of the ACTH receptor (MC2R) gene are reported in this familial glucocorticoid deficiency clinical case. PMID: 18492762
45. In cortices attached to adrenocortical adenomas, MC2R mRNA was expressed faintly in zona fasciculata and zona reticularis. PMID: 18505908
46. 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. PMID: 18818285
47. The majority of MC2R mutations found in familial glucocorticoid deficiency type 1 fail to function because they fail to traffic to the cell surface PMID: 18840636
48. MRAP not only facilitates MC2 receptor trafficking but also allows properly localized receptor to bind ACTH and consequently signal. PMID: 18981183
49. The polymorphisms of the MC2R promoter might be one important factor that influences the efficacy of ACTH therapy on infantile spasms. PMID: 19024088

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HGNC: 6930

OMIM: 202200

KEGG: hsa:4158

STRING: 9606.ENSP00000333821

UniGene: Hs.248144