🧬 基因注释：DEPDC5

官方名称：DEP domain containing 5, GATOR1 subcomplex subunit

功能摘要：This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].

• HNRNPL 综合评分: 0.424 · 证据 2 条
• HNRNPA1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 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
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• CELF2 综合评分: 0.248 · 证据 2 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• Srsf3 综合评分: 0.212 · 证据 1 条
• NOVA1 综合评分: 0.200 · 证据 2 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• AQR 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录