🧬 基因注释：SEPTIN5
官方名称：septin 5
功能摘要：This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010].
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 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
- 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
- PRPF8 综合评分: 0.262 · 证据 1 条
- TIA1 综合评分: 0.250 · 证据 1 条
- ELAVL3 综合评分: 0.224 · 证据 1 条
- AQR 综合评分: 0.212 · 证据 1 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- PCBP1 综合评分: 0.200 · 证据 2 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- EIF4A3 综合评分: 0.162 · 证据 2 条
该基因暂无关联疾病记录