🧬 基因注释：SPN
官方名称：sialophorin
功能摘要：This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017].
- CELF2 置信度: 2.0
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- PABPC4 置信度: 2.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- SAFB2 置信度: 1.0
- SRSF2 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
- XRN2 置信度: 1.0
- fus 置信度: 1.0
该基因暂无关联疾病记录