Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
ITGB1BP2 - Integrin Subunit Beta 1 Binding Protein 2
Alias:
CHORDC3
ITGB1BP
MELUSIN
MSTP015
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有两个半胱氨酸和组氨酸丰富结构域(CHORD)、PXXP基序、YXXI/P基序、可能的SH2和SH3结构域结合基序以及C端具有结合钙离子的酸性区域的蛋白质。双杂交分析表明,该蛋白质与β1整合素亚基的胞质结构域相互作用,被认为是一种分子伴侣蛋白质。在小鼠的该基因的直向同源物研究中,发现小鼠中该基因的缺失会导致对机械应力的心脏肥大失败。可变剪接导致多种转录变异体编码不同的异构体,包括缺乏几个结构域(包括一个CHORD结构域)的异构体。[由RefSeq,2017年5月提供]
Related ID:
NCBI:26548
ENSEMBL:ENSG00000147166
HGNC:6154
UNIPROT:Q9UKP3
OMIM:300332
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26548
3
11
3622 bp
38.38
15
--
3
3
ITGB1BP2 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
Reset
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!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top