🧬 基因注释：SRP54
📝 官方信息
官方名称：signal recognition particle 54
功能摘要：Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytosol and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Apr 2022]
🎯 作为靶基因的剪接因子
- HNRNPL 综合评分: 0.398 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MATR3 综合评分: 0.324 · 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
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
neutropenia, severe congenital, 8, autosomal dominant
高关联 (0.756)
neurodegenerative disease
中关联 (0.536)
Shwachman-Diamond syndrome 1
中关联 (0.453)
Abnormality of the skeletal system
中关联 (0.438)
genetic disorder
低关联 (0.374)
diabetes mellitus
低关联 (0.348)
ciliary dyskinesia, primary, 40
低关联 (0.340)
type 2 diabetes mellitus
低关联 (0.319)
premature birth
低关联 (0.286)
ovarian dysfunction
低关联 (0.276)