🧬 基因注释：STIM1

官方名称：stromal interaction molecule 1

功能摘要：This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].

• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPM 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.398 · 证据 2 条
• PTBP1 综合评分: 0.398 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• SRSF9 综合评分: 0.362 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• KHSRP 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
• fus 综合评分: 0.300 · 证据 1 条
• Ptbp2 综合评分: 0.298 · 证据 1 条
• MBNL2 综合评分: 0.262 · 证据 1 条
• PCBP2 综合评分: 0.262 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条

该基因暂无关联疾病记录