Your Good Partner in Biology Research

  1. 首页
  2. 蛋白
  3. 重组蛋白
  4. Recombinant Human Sodium-dependent phosphate transporter 2 (SLC20A2), partial

Recombinant Human Sodium-dependent phosphate transporter 2 (SLC20A2), partial

  • 货号：
    CSB-YP600854HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP600854HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP600854HU-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-BP600854HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP600854HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC20A2
  • Uniprot No.：
  • 别名：
    Gibbon ape leukemia virus receptor 2; Gibbon leukemia virus receptor 2; GLVR 2; GLVR-2; GLVR2; hPit2; IBGC3; MLVAR; Murine leukemia virus amphotropic receptor; murine leukemia virus, amphotropic, receptor for; Phosphate transporter 2; PIT 2; PiT-2; Pit2; RAM1; S20A2_HUMAN; SLC20A2; Sodium-dependent phosphate transporter 2; Solute carrier family 20 (phosphate transporter) member 2; solute carrier family 20 (phosphate transporter), member 2; Solute carrier family 20 member 2
  • 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：
    Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not significantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants.
  • 基因功能参考文献：
    1. A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients PMID: 29578123
    2. This study demonstrated that the frequently mutated gene is SLC20A2 caused primary familial brain calcifications where mutations can affect any domain of the protein. PMID: 29325620
    3. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers. PMID: 29034894
    4. SLC20A2 expression is reduced in the primary brain familiar calcification patients carrying SLC20A2 mutation. PMID: 28578517
    5. This review showed that SLC20A2 was the most common gene involved with 75 out of 137 cases included with brain calcification. PMID: 28162874
    6. Deletion of 5' noncoding region of SLC20A2 was associated with primary familial brain calcification in a Finnish family with three affected memebers. PMID: 27726124
    7. The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. PMID: 27671522
    8. Report sub-cellular expression analysis of mutant PiT-2 in primary cultured fibroblasts from a primary familial brain calcification patient, showing that p.Trp626_Thr629dup in SLC20A2 alters PiT-2 sub-cellular localization and reduces Pi-uptake, leading to onset of PFBC in our patient. PMID: 28722801
    9. Deletions of exon 2 of SLC20A2 identified in two unrelated patients segregated with primary brain calcification. PMID: 27245298
    10. In mouse cells, the SLC20A2 brain calcification causal missense mutations exert their effect in a dominant negative manner resulting in decreased wild-type PiT2 Pi transport. PMID: 27943094
    11. This study presented the Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. PMID: 26860091
    12. SLC20A2 variant was identified in a family with CHRNB2 mutation, brain calcifications and generalized tonic-clonic seizures. PMID: 26475232
    13. Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Three causative genes have been identified: SLC20A2, PDGFRB and, recently, PDGFB, whose associated phenotype has not yet been extensively studied. PMID: 26129893
    14. A summary of SLC20A2 variants reported in patients with primary familial brain calcification (review). PMID: 25726928
    15. Currently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification. PMID: 25906927
    16. The SLC20A2 mutation leading to the accumulation of calcium salts in the brain. PMID: 25686613
    17. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 25958344
    18. clinical, neuroimaging and genetic findings in an Italian family with idiopathic basal ganglia calcification; 2 affected family members harbored a novel missense mutation, G1618A leading to gly540-to-arg (G540R) substitution in a highly conserved residue PMID: 25348593
    19. This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification. PMID: 25284758
    20. Familial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia. PMID: 25636102
    21. The mutation of SLC20A2 cause primary familial brain calcifications. PMID: 25212438
    22. deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] PMID: 24135862
    23. SLC20A2 mutations are a major cause of familial idiopathic basal ganglia calcification in Japan PMID: 24463626
    24. SLC20A2 and PDGFRB mutations result in different idiopathic basal ganglia calcification phenotypes. PMID: 24065723
    25. Our study supports the hypothesis that SLC20A2 is a causative gene of Idiopathic basal ganglia calcification. PMID: 23939468
    26. This finding reinforces the relevance of the SLC20A2 gene to the etiopathogeny of familial idiopathic basal ganglia calcification PMID: 23406454
    27. we identified a novel SLC20A2 mutation, which causes a significant decrease in SLC20A2 mRNA expression. PMID: 23437308
    28. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 23334463
    29. Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification. PMID: 23122642
    30. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. PMID: 22327515
    31. forms assemblies at cell surface PMID: 11932396
    32. structure activity relationship of deletion mutants of Pit2 retroviral receptor [Pit2] PMID: 15308749
    33. the presence of an aspartic acid in either of the PiT family signature sequences is critical for the Na+-dependent P(i) transport function of human PiT2 PMID: 15955065
    34. Analysis of kinetics and substrate specificity of SLC20A2. PMID: 17494632

    显示更多

    收起更多

  • 相关疾病：
    Basal ganglia calcification, idiopathic, 1 (IBGC1)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Inorganic phosphate transporter (PiT) (TC 2.A.20) family
  • 组织特异性：
    Ubiquitously expressed.
  • 数据库链接：

    HGNC: 10947

    OMIM: 158378

    KEGG: hsa:6575

    STRING: 9606.ENSP00000340465

    UniGene: Hs.653173