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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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中文
人类
RBFOX2 - RNA Binding Fox-1 Homolog 2
Alias:
RTA
fxh
FOX2
RBM9
Fox-2
HNRBP2
HRNBP2
dJ106I20.3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是几个与线虫基因Fox-1相似的人类基因之一。这个基因编码一个被认为在神经系统和其他细胞类型中作为可选外显子剪接的关键调节因子的RNA结合蛋白。该蛋白结合许多可选外显子下游的保守UGCAUG元件,并促进成熟转录本中可选外显子的包含。该蛋白还与雌激素受体1转录因子相互作用,并调节雌激素受体1的转录活性。已发现这个基因的多个转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:23543
ENSEMBL:ENSG00000100320
HGNC:9906
UNIPROT:O43251
OMIM:612149
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23543
57
14
290089 bp
41.37
43
--
6
9
RBFOX2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Type
Name
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CAS Number
Status
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Link
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References Literature
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