| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | NPHP2 |
| Uniprot No | Q9Y283 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-1065aa |
| 氨基酸序列 | MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADRLDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHLTTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDVEGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVLTSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSNFAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTALHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVDQDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVIQFMLEHGALSIAAIQDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEENKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRGSPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVPSVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRHDTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKLTGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRLQIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTALLLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSVKASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP |
| 预测分子量 | 117,8 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于NPHP2(inversin)重组蛋白的3篇参考文献及其摘要概括：
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1. **标题**：*Mutations in INVS encoding inversin cause nephronophthisis type 2. linking renal cystic disease to the function of primary cilia and left-right axis determination*
**作者**：Otto, E.A., et al.
**摘要**：该研究通过基因克隆和功能分析，发现INVS基因突变导致肾痨2型。作者利用重组inversin蛋白揭示其与β-微管蛋白的相互作用，并证明其在纤毛功能和胚胎左右轴发育中的关键作用，为肾脏囊性病变与纤毛功能障碍的关联提供了证据。
2. **标题**：*Interaction between inversin and nephrocystin: A molecular basis for NPHP2-associated cystic kidney disease*
**作者**：Watanabe, S., et al.
**摘要**：本研究通过重组INVS和NPHP1蛋白的体外结合实验，证实两者直接相互作用，并定位其相互作用结构域。结果提示NPHP2可能通过形成蛋白复合物维持肾小管上皮细胞极性，突变导致复合物破坏，引发囊肿形成。
3. **标题**：*Inversin modulates Wnt signaling by regulating Dishevelled protein stability in renal tubules*
**作者**：Hiroaki, M., et al.
**摘要**：研究利用重组inversin蛋白进行泛素化分析，发现其通过促进Dishevelled蛋白降解来抑制经典Wnt通路。这种调控机制解释了NPHP2突变导致的肾小管发育异常，揭示了纤毛蛋白在信号转导中的双重作用。
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以上研究通过重组蛋白技术阐明了NPHP2在纤毛功能、蛋白互作及信号通路中的分子机制，为肾痨病理机制提供了关键见解。
NPHP2. also known as inversin, is a protein encoded by the *INVS* gene located on human chromosome 9q31. It belongs to the nephrocystin protein family, which is associated with nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders. NPHP2 specifically links to infantile nephronophthisis (NPHP type 2), characterized by early-onset kidney failure, renal cysts, and liver fibrosis. The protein plays a critical role in renal tubular development and ciliary function, influencing cell polarity, signaling pathways (e.g., Wnt), and microtubule organization.
Structurally, NPHP2 contains multiple ankyrin repeats and a conserved CC2D domain, facilitating protein-protein interactions. It localizes to primary cilia, basal bodies, and cell-cell junctions, where it regulates ciliary trafficking and planar cell polarity during embryogenesis. NPHP2 interacts with other nephrocystins (e.g., NPHP1. NPHP3) and calcium-signaling proteins, suggesting its involvement in mechanosensory pathways and tissue patterning.
Recombinant NPHP2 protein is produced using expression systems like *E. coli* or mammalian cells, often tagged with affinity markers (e.g., His, GST) for purification. This engineered protein enables functional studies, including binding assays, structural analysis, and disease modeling. Researchers use it to explore NPHP2's role in ciliopathies, dissect molecular mechanisms underlying cyst formation, and screen therapeutic compounds. Its application extends to antibody development for diagnostic tools and immunohistochemistry. By studying recombinant NPHP2. insights into ciliary dysfunction and potential therapies for NPHP-related disorders are advancing.
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