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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
ITGB3BP - Integrin Subunit Beta 3 Binding Protein
Alias:
CENPR
NRIF3
TAP20
CENP-R
HSU37139
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个结合并增强核受体家族成员活性的转录协同调节子,包括甲状腺激素受体和类视黄酸X受体。这个蛋白质也作为NF-kappaB依赖信号传导的核心抑制子。这个蛋白质通过caspase 2介导的信号通路在乳腺癌细胞中诱导凋亡。这个蛋白质也是着丝粒特异性的组蛋白H3变异体核小体相关复合物(CENP-NAC)的成分,可能通过将组蛋白H3变异体CENP-A招募到着丝粒来参与有丝分裂进程。交替剪接产生多个转录变异体。[RefSeq,2011年9月提供]
Related ID:
NCBI:23421
ENSEMBL:ENSG00000142856
HGNC:6157
UNIPROT:Q13352
OMIM:605494
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23421
13
9
88418 bp
20.19
9
--
5
18
ITGB3BP 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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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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