🧬 基因注释：EMP2
官方名称：epithelial membrane protein 2
功能摘要：This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015].
- RBFOX2 综合评分: 0.460 · 证据 2 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- FUS 综合评分: 0.424 · 证据 1 条
- HNRNPL 综合评分: 0.424 · 证据 2 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- ACIN1 综合评分: 0.248 · 证据 2 条
- YBX1 综合评分: 0.224 · 证据 1 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- MATR3 综合评分: 0.200 · 证据 1 条
该基因暂无关联疾病记录