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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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小鼠
Smarca4 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Alias:
Brg1
BAF190A
SW1/SNF
HP1-BP72
SNF2beta
b2b692Clo
b2b508.1Clo
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有多种功能,包括ATP水解活性;DNA聚合酶结合活性;核酸结合活性。参与神经系统发育;Wnt信号通路的正调控;以及RNA聚合酶II的转录正调控。在基因表达的负效应中起上游或内部作用。在几个过程的上游或内部起作用,包括动物器官发育;囊胚发育;和循环系统发育。位于常染色质;异染色质;和周围染色质原纤维。是SWI/SNF复合物;nBAF复合物;和npBAF复合物的一部分。在几个结构中表达,包括消化系统;早期概念期;生殖泌尿系统;神经系统;和感觉器官。用于研究乳腺癌。该基因的人类同源物涉及Coffin-Siris综合症4;肝细胞癌;非小细胞肺癌;和成釉细胞癌。与人SMARCA4(SWI/SNF相关,与染色质相关的基质关联物,依赖于肌动蛋白的染色质调控子,a亚家族成员4)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20586
ENSEMBL:ENSMUSG00000032187
UNIPROT:Q3TKT4
Basic Information
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Length
MW (kDa)
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20586
14
34
88150 bp
181.43
17
16
Smarca4 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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