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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
TAB3 - TGF-beta Activated Kinase 1 (MAP3K7) Binding Protein 3
Alias:
NAP1
MAP3K7IP3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物在NF-kappaB信号传导途径中起作用。编码的蛋白质,以及与功能冗余蛋白质MAP3K7IP2/TAB2相似并在功能上与其冗余的蛋白质,在受到前炎症细胞因子TNF或IL-1刺激时,与蛋白激酶MAP3K7/TAK1和TRAF2或TRAF6形成三元复合物。随后的MAP3K7/TAK1激酶活性触发信号级联,导致NF-kappaB转录因子激活。人类基因组包含一个相关的假基因。已经描述了可变剪接转录变异体,但其生物学有效性尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:257397
ENSEMBL:ENSG00000157625
HGNC:30681
UNIPROT:Q8N5C8
OMIM:300480
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
257397
9
11
61813 bp
78.65
19
--
6
20
TAB3 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
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Type
Name
MGI
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CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
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