🧬 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].
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.224 · 证据 1 条
- PABPC4 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CELF2 综合评分: 0.150 · 证据 2 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- HNRNPUL1 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- SAFB2 综合评分: 0.100 · 证据 1 条
- XRN2 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录