人类

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]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
24
35
101244 bp
184.65
4938
9
17
42

SMARCA4 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.

Gene Expression

Tissue-specific RNA expression

Organ
Abundance
Alphabetical

Cell-specific RNA expression

Organ
Abundance
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Mutation Direct
Sequence
Comparison
Al agent
Tutorials
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