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  4. Recombinant Human Vasopressin V2 receptor (AVPR2), partial

Recombinant Human Vasopressin V2 receptor (AVPR2), partial

  • 货号：
    CSB-YP002470HU1
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP002470HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP002470HU1-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP002470HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP002470HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 别名：
    ADHR; Antidiuretic hormone receptor; Arginine vasopressin receptor 2; AVP R2; AVPR 2; AVPR V2; AVPR2; DI1; DIR 3; DIR; DIR3; MGC126533; MGC138386; NDI; Nephrogenic diabetes insipidus; Renal type arginine vasopressin receptor; Renal-type arginine vasopressin receptor; V2 receptor; V2R; V2R_HUMAN; Vasopressin V2; Vasopressin V2 receptor
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.
  • 基因功能参考文献：
    1. Being a rapid diagnostic tool for congenital nephrogenic diabetes insipidus , direct sequencing of AVPR2 should be encouraged in newborns with familial predisposition to congenital nephrogenic diabetes insipidus. PMID: 29594432
    2. A novel 22.1-kb deletion in AVPR2 was identified, leading to X-linked nephrogenic diabetes insipidus in a Chinese pedigree. PMID: 29394883
    3. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression. PMID: 29125546
    4. Data found Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking PMID: 27355191
    5. An overview of AVPR2 mutations in genetic forms of nephrogenic diabetes insipidus (review) PMID: 27156763
    6. this case report describes a case of congenital nephrogenic diabetes insipidus with an AVPR2 gene I324M missense mutation; this is the first report of this mutation in patients with congenital nephrogenic diabetes insipidus PMID: 27565746
    7. the canceling of the desensitization effect of OPC51803 by the pharmacochaperone effect after long-term treatment may produce sustainable signaling, and thus pharmacochaperone agonists such as OPC51803 may serve as promising therapeutics for NDI caused by misfolded V2R mutants. PMID: 27601473
    8. AVPR2 missense mutation is associated with nephrogenic diabetes insipidus. PMID: 26974133
    9. Data suggest that the congenital congenital nephrogenic diabetes insipidus (NDI) in the patient, his mother and grandmother was probably due to mutation of the arginine vasopressin receptor 2 (AVPR2) gene. PMID: 27577218
    10. a splice site mutation in AVPR2 leads to partial X-linked NDI in two brothers. PMID: 26795631
    11. A heterozygous deletion in exon 1 of the AVPR2 gene is associated with nephrogenic diabetes insipidus. PMID: 26244674
    12. In this study, we identified and characterized a new gain-of function mutation of the V2R, which leads to nephrogenic syndrome of inappropriate diuresis. PMID: 26131744
    13. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. PMID: 27117808
    14. Rescue of the N321K-V2R function by Val(4)-desmopressin action in nephrogenic diabetes insipidus. PMID: 24628417
    15. X-linked nephrogenic diabetes insipidus and severity of illness in this family is caused by a novel deletion in the AVPR2 gene PMID: 24026507
    16. AVP acting at V2R does not appear to regulate water losses from body fluids other than renal excretion during exercise. PMID: 24944242
    17. This review summarizes some of the unexpected roles of V2R signaling and suggests that vasopressin signaling itself may contribute crucially to loss of polarity and enhanced proliferation in cystic kidney epithelium. PMID: 24556353
    18. 52 disease-causing mutations of AVPR2 were identified. missense mutations were most common (54%), followed by deletion mutations. 64 women who had monoallelic disease-causing AVPR2 mutations, 16 had NDI symptoms, including 4 complete NDI subjects PMID: 23150186
    19. Three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V) may be related to nephrogenic syndrome of inappropriate antidiuresis and to nephrogenic diabetes insipidus. PMID: 23762448
    20. vasopressin receptor type 2 signaling is controlled by retromer and arrestin in a noncanonical regulatory pathway PMID: 23935101
    21. The V88M mutation is associated with phenotypical diversity, which may be explained by the fact that both the expression level and the hormone-binding affinity are affected by the mutation. PMID: 19816050
    22. No pathological variants affecting R137 were detected among the 5,142 AVPR2 alleles successfully genotyped. Even at the population extremes of serum sodium distribution, we estimate minor allele frequency PMID: 23362144
    23. crystal structure of beta-arrestin-1 (also called arrestin-2) in complex with a fully phosphorylated 29-amino-acid carboxy-terminal peptide derived from the human V2 vasopressin receptor (V2Rpp) PMID: 23604254
    24. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2. PMID: 23364801
    25. Of the 15 patients with diabetes insipidus eight patients have AVPR2 mutations PMID: 22644838
    26. X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers was caused by a novel contiguous deletion of 17,905 bp of the entire AVPR2 gene and intron 7 of the ARHGAP4 gene. PMID: 22965914
    27. The deletion mechanisms in the AVPR2 region do not follow the rules of non-allelic homologous recombination. Review. PMID: 22879391
    28. In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial nephrogenic diabetes insipidus. [Review] PMID: 22386940
    29. Loss-of-function mutations in the vasopressin type 2 receptor gene is associated with nephrogenic diabetes insipidus. PMID: 21917732
    30. the minor haplotype constructs of AVPR2 SNPs were associated with larger body weight losses during the Ironman Triathlons. PMID: 22052024
    31. V2R antagonists can act as protean agonists, serving as pharmacological chaperones for inactivating V2R mutants and also as inverse agonists of wild-type receptors. PMID: 22144672
    32. It is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops. PMID: 21574774
    33. A novel missense mutation c.506T > C (p.L169P) in AVPR2 in a patient with inherited nephrogenic diabetes insipidus. PMID: 22145481
    34. Overexpression of a V2R fragment corresponding to V2R-i3 as a fusion protein with thioredoxin A at the N-terminus and a hexahistidine tag between the two proteins. PMID: 21575724
    35. Our study shows for the first time that renal cancer may effectively synthesize and express the V2-R. PMID: 19217806
    36. no asp-lys-ile and asp-arg-tyr mutations significantly altered cAMP production and cell surface expression of V2R in these cells PMID: 20683494
    37. The 12E-V2R variant has increased binding affinity for AVP, resulting in increased signal transduction, and is associated with increased levels of VWF propeptide, VWF, and FVIII. PMID: 20403097
    38. study of two unrelated Thai boys with congenital nephrogenic diabetes insipidus; the novel AVPR2 mutation M311V retains partial activity and results in a milder form of nephrogenic diabetes insipidus PMID: 20389105
    39. The X-linked nephrogenic diabetes insipidus is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein. PMID: 19703807
    40. Amino acid substitution of AVPR2 induces the nephrogenic syndrome of inappropriate antidiuresis by reducing surface receptor levels and increasgin cycl AMP production. PMID: 20159941
    41. Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations PMID: 19996159
    42. proteolytic cleavage of the V2 receptor requires a defined conformation and might play a role in signal termination at elevated hormone concentrations PMID: 10561596
    43. A novel type of contiguous gene deletion of AVPR2 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus. PMID: 11754100
    44. A new mutation associated with nephrogenic diabetes insipidus was isolated: a 6-AA deletion between G107 and C112. PMID: 11868598
    45. Mutations causing NDI include R106C, F287L, and R337X. PMID: 11916004
    46. a single amino acid difference in the first extracellular loop determines the efficiency of cell surface expression PMID: 11923476
    47. HV2R has a serine/threonine motif that is required for retention in the cytoplasm PMID: 12482593
    48. palmitoylation enhances the recruitment of beta-arrestin to the activated V2 vasopressin receptor thus facilitating processes requiring the scaffolding action of beta-arrestin PMID: 12900404
    49. V2 vasopressin receptor degradation is regulated by agonist-promoted ubiquitination PMID: 12960162
    50. examination of interaction with beta-arrestin and trafficking patterns by heterodimerization with V1 vasopressin receptor PMID: 14757828

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  • 相关疾病：
    Nephrogenic syndrome of inappropriate antidiuresis (NSIAD); Diabetes insipidus, nephrogenic, X-linked (XNDI)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    G-protein coupled receptor 1 family, Vasopressin/oxytocin receptor subfamily
  • 组织特异性：
    Kidney.
  • 数据库链接：

    HGNC: 897

    OMIM: 300538

    KEGG: hsa:554

    STRING: 9606.ENSP00000338072

    UniGene: Hs.567240