🧬 基因注释：ACTN2
官方名称：actinin alpha 2
功能摘要：Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].
- FUS 综合评分: 0.362 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- Tardbp 综合评分: 0.294 · 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
- ELAVL3 综合评分: 0.162 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF3 综合评分: 0.100 · 证据 1 条
- NXF1 综合评分: 0.100 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录