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  4. Recombinant Human Gap junction delta-2 protein (GJD2)

Recombinant Human Gap junction delta-2 protein (GJD2)

  • 货号：
    CSB-CF891536HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
  • Uniprot No.：
  • 别名：
    GJD2; GJA9; Gap junction delta-2 protein; Connexin-36; Cx36; Gap junction alpha-9 protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-321
  • 氨基酸序列
    MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQP GCNQACYDRAFPISHIRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDP PESIGGPGGTGGGGSGGGKREDKKLQNAIVNGVLQNTENTSKETEPDCLEVKELTPHPSG LRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQYFLYGFSVPGLYECNRYPCIKEV ECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKIKLAVRGAQAKRKSIYEIRNK DLPRVSVPNFGRTQSSDSAYV
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
  • 基因功能参考文献：
    1. a possible contribution of connexin 36 to amyotrophic lateral sclerosis pathogenesis PMID: 29246791
    2. Our findings suggest that the stimulatory effect of hexanol and isoflurane on Cx36 gap junction conductance could be achieved by re-shuffling of the inter-subunit disulphide bond between C264 and C92 to the intra-subunit one between C264 and C87. PMID: 29298877
    3. Our studies have shown that the heritability of myopia makes 66.4% in Lithuania. We detected significant associations between the combinations of GJD2 CC and RASGRF1 GT and odds ratio of developing myopia. PMID: 29793445
    4. Study shows that human outer retina displays a diverse cohort of connexin 36 gap junctions that follows the general mammalian scheme and display a great functional diversity. PMID: 26173976
    5. Sparse punctate Cx36 expression was seen in the myenteric plexus in nerve trunks and some platelet-derived growth factor receptor-alpha-positive cell and interstitial cells of Cajal fibers in patients with Hirschsprung's disease. PMID: 27916369
    6. Genetic variants in ZC3H11B, RSPO1, and GJD2 are associated with susceptibility to the development of high myopia in a Han Chinese population. PMID: 26485405
    7. It was shown that the decreased level of the examined neuronal proteins was accompanied by the impaired coexpression of synaptophysin/neurofilaments and Cx36 in the series of astrocytomas--anaplastic astrocytomas--glioblastomas. PMID: 26226778
    8. In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. PMID: 23834555
    9. Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy. PMID: 23756480
    10. Cx36 GJs are highly cation-selective and should exhibit relatively low permeability to numerous vital negatively charged metabolites and high permeability to potassium ion, a major charge carrier in cell-cell communication. PMID: 22752717
    11. A polymorphism of Cx36 gene is associated to certain forms of human diabetes PMID: 22288100
    12. connexin genes Gjd2 coding for mCx36, Gjc1 coding for mCx45 and Gja10 coding for mCx57 in the mouse, a subset of 4 connexin genes, including the unique GJA9 (Cx59) and GJA10 (Cx62), could be detected at least as transcript isoforms in the human retina. PMID: 20979653
    13. Variations in GJD2 is associated with refractive errors and myopia. PMID: 20835239
    14. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family PMID: 12522556
    15. connexin 36 expression is regulated by the transcriptional repressor NRSF/REST PMID: 14565956
    16. 35delG mutation of the GJB2 gne is a risk for deafness PMID: 15083701
    17. Results of reporter gene analysis of Cx36 expression in transgenic mice suggest that Cx36 has functional roles not only in several types of neurons in the retina and central nervous system but also in excitable cells of the pancreas and adrenal gland. PMID: 15116387
    18. significant association between juvenile myoclonic epilepsy and a Polymorphism, Single Nucleotide within exon 2 of CX36. PMID: 15235036
    19. Intercellular coupling occurs between neuronal and microglial populations through Cx36 gap junctions; This has important implications for normal neural physiology and microglial responses in neuronopathology in the mammalian CNS. PMID: 16211561
    20. The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with juvenile myoclonic epilepsy. PMID: 16876983
    21. Beta cells are extensively coupled within pancreatic islets via exchanges of mostly positively charged molecules across Cx36 channels. PMID: 17828386
    22. The data show that Cx36 is a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression. PMID: 19000992
    23. CaMKII and Cx36 were shown to be significantly colocalized in the inferior olive, a brainstem nucleus highly enriched in electrical synapses, indicating physical proximity of these proteins PMID: 19095792
    24. ZO-2 may serve to anchor regulatory proteins at gap junctions composed of Cx36. PMID: 19418635

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  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
  • 蛋白家族：
    Connexin family, Delta-type subfamily
  • 组织特异性：
    Highly expressed in neurons.
  • 数据库链接：

    HGNC: 19154

    OMIM: 607058

    KEGG: hsa:57369

    STRING: 9606.ENSP00000290374

    UniGene: Hs.283816