🧬 基因注释：AK2
📝 官方信息
官方名称：adenylate kinase 2
功能摘要：Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010].
🎯 作为靶基因的剪接因子
- PTBP1 综合评分: 0.486 · 证据 2 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- Srsf3 综合评分: 0.398 · 证据 1 条
- Tardbp 综合评分: 0.379 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 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
- QKI 综合评分: 0.350 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- RBM22 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- U2af1 综合评分: 0.310 · 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
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录