🧬 基因注释：MATR3
📝 官方信息
官方名称：matrin 3
功能摘要：This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.546 · 证据 2 条
- QKI 综合评分: 0.494 · 证据 1 条
- HNRNPH1 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.398 · 证据 2 条
- RBFOX2 综合评分: 0.398 · 证据 2 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPA1 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
- FUBP1 综合评分: 0.348 · 证据 2 条
- NOVA1 综合评分: 0.324 · 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
- HNRNPD 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
amyotrophic lateral sclerosis
高关联 (0.747)
distal myopathy with vocal cord weakness
中关联 (0.568)
neurodegenerative disease
中关联 (0.528)
distal myopathy
中关联 (0.412)
genetic disorder
低关联 (0.193)
Neurodegeneration
低关联 (0.118)