Recombinant Human Relaxin receptor 2 (RXFP2), partial

1. In the TMD discovery cohort, sex-stratified analysis identified 2 additional genome-wide significant loci in females. One lying upstream of the relaxin/insulin-like family peptide receptor 2 ( RXP2) (chromosome 13, rs60249166,[OR] = 0.65, P = 3.6 x 10(-8)) was replicated among females in the meta-analysis (1-tailed P = 0.052). The other (chromosome 17, rs1531554, OR = 0.68, P = 2.9 x 10(-8)) was replicated among f PMID: 28081371
2. Mapping key regions of the RXFP2 low-density lipoprotein class-A module that are involved in signal activation. PMID: 24983702
3. Findings suggest a novel and gender-specific role for INSL3 and cognate receptor RXFP2 signaling in ocular surface homeostasis. PMID: 23539510
4. haplotype analysis of the RXFP2 gene in T222P carriers and their parents showed that this variant is linked to the previously inferred C-C-G-A-13 haplotype and consequently provides further support to the 'founder effect' hypothesis PMID: 20636340
5. higher expression of LGR8 may facilitate tumor invasiveness in the early clinical stage of hepatocellular carcinoma. PMID: 21789898
6. Data show that synthetic parallel dimer of the B-chain of INSL3 is a potent inhibitor of the native peptide's binding to its receptor, RXFP2. PMID: 20560146
7. the only clinical consequence of alterations of the INSL3-LGR8 system seems to be failure of the testis to normally descend in the scrotum during embryonic development, without affecting the spermatogenic and endocrine components of the testis itself PMID: 12970298
8. mutations involving the human LGR8 gene do not represent a frequent cause of cryptorchidism in the Finnish population PMID: 14656401
9. recurrent T222P mutation in the LGR8 gene was not found in any of the patients. These data show for the first time a lack of association between genetic factors necessary for correct testicular descent and anorchia. PMID: 15579790
10. LGR8 signal is activated by the relaxin-like factor PMID: 15708846
11. LGR8.1 spliced isoform is expressed at the cell surface, unable to stimulate cAMP production. PMID: 16051677
12. Alanine-substituted analogs were used to identify the key residues of INSL3 that are responsible for the interaction with the ectodomain of LGR8. These include Arg(B16) and Val(B19), with His(B12) and Arg(B20) playing a secondary role. PMID: 16867980
13. Novel allele of LGR8 (R223K) found in one patient with retractile testes. PMID: 16926383
14. The V18M mutation in the insulin-like factor 3 signal peptide had a significant deleterious effect in activating LGR8 receptor in ex vivo studies PMID: 17437853
15. predicted the complete INSL3/LGR8 primary binding site, including interactions between INSL3 His-B12 and LGR8 Trp-177, INSL3 Val-B19 and LGR8 Ile-179, and INSL3 Arg-B20 with LGR8 Asp-181 and Glu-229 PMID: 17473281
16. negative cooperativity is present and that INSL3-RXFP2 binding shows both similarities and differences with insulin binding to the insulin receptor PMID: 18063691
17. T222P mutation cannot be considered either causative or a susceptibility factor for cryptorchidism. PMID: 18073304
18. No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population PMID: 18772597
19. relaxin binds with high affinity to the leucine-rich repeats of RXFP2 in a manner similar to INSL3 binding to its receptor PMID: 19416162
20. Several missense mutations were described in both the INSL3 and RXFP2 genes and a novel V39G INSL3 mutation in a patient with cryptorchidism was identified PMID: 19416188
21. This study confirmed the association between INSL3 and RXFP2 gene mutations and human cryptorchidism. PMID: 19416190
22. Data link RXFP2 gene mutations with human osteoporosis. PMID: 19416191

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HGNC: 17318

OMIM: 219050

KEGG: hsa:122042

STRING: 9606.ENSP00000298386

UniGene: Hs.680763