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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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SMARCA4 - SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4
Alias:
BRG1
CSS4
SNF2
SWI2
MRD16
RTPS2
BAF190
SNF2L4
SNF2LB
hSNF2b
BAF190A
SNF2-beta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是SWI/SNF家族蛋白质的一员,与果蝇的brama蛋白质相似。这个家族的成员具有解旋酶和ATP酶活性,被认为可以通过改变那些基因周围的染色质结构来调节某些基因的转录。编码的蛋白质是大型ATP依赖的染色质重塑复合体SNF/SWI的一部分,该复合体对于正常由染色质抑制的基因的转录激活是必需的。此外,这种蛋白质可以结合BRCA1,并调节肿瘤生成蛋白质CD44的表达。这个基因的突变导致2型成釉细胞瘤倾向综合征。已经发现这个基因有多个转录变异体,编码不同的异构体。[RefSeq提供,2012年5月]
Related ID:
NCBI:6597
ENSEMBL:ENSG00000127616
HGNC:11100
UNIPROT:P51532
OMIM:603254
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6597
24
35
101244 bp
184.65
4938
9
17
42
SMARCA4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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