🧬 基因注释：INPP5E

官方名称：inositol polyphosphate-5-phosphatase E

功能摘要：The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• Tardbp 综合评分: 0.336 · 证据 1 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• RBM10 综合评分: 0.312 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• U2af2 综合评分: 0.244 · 证据 1 条
• AQR 综合评分: 0.212 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• SF3A3 综合评分: 0.200 · 证据 1 条

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