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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
RFXANK - Regulatory Factor X Associated Ankyrin Containing Protein
Alias:
BLS
RFX-B
ANKRA1
F14150_1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
主要组织相容性复合体(MHC)II类分子是参与发育和免疫系统控制的跨膜蛋白。这个基因编码的蛋白质与调节因子X相关蛋白和调节因子-5形成复合物,该复合物结合特定的MHC II类基因启动子的X盒基序,并激活它们的转录。一旦与启动子结合,这个复合物与非DNA结合因子MHC II类转激活子结合,后者控制MHC II类基因表达的细胞类型特性和诱导性。这个蛋白质包含参与蛋白质之间相互作用的ankyrin重复序列。这个基因的突变与B互补组中Ⅱ型无淋巴细胞综合征有关。这个基因有多个可变剪接转录变异体,编码不同的异构体。[RefSeq,2013年7月提供]
Related ID:
NCBI:8625
ENSEMBL:ENSG00000064490
HGNC:9987
UNIPROT:O14593
OMIM:603200
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8625
21
10
9609 bp
28.10
223
1
4
10
RFXANK 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
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Type
Name
MGI
Strain of Origin
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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