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
LDB3 - LIM Domain Binding 3
Alias:
MFM4
ZASP
CMD1C
CMH24
CMPD3
LVNC3
CYPHER
LDB3Z1
LDB3Z4
ORACLE
PDLIM6
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
这个基因编码一个含有PDZ结构域的蛋白质。PDZ基序是模块化的蛋白质-蛋白质相互作用结构域,由80-120个氨基酸残基组成。含有PDZ结构域的蛋白质在细胞骨架组装中相互相互作用,或者与其他参与膜蛋白定位和聚集的蛋白质相互作用。这个基因编码的蛋白质通过其N-末端PDZ结构域与alpha-actinin-2相互作用,通过其C-末端LIM结构域与蛋白激酶C相互作用。LIM结构域是一个由50-60个氨基酸组成的富含半胱氨酸的基序,包含两个锌结合模块。这个蛋白质还可以与myozenin家族的所有三个成员相互作用。这个基因的突变与肌原纤维肌病和扩张型心肌病有关。已经识别出编码不同异型的可变剪接转录变异体;所有异型都具有N-末端PDZ结构域,而只有较长的异型(1、2和5)具有C-末端LIM结构域。[由RefSeq,2010年1月提供]
Related ID:
NCBI:11155
ENSEMBL:ENSG00000122367
HGNC:15710
UNIPROT:O75112
OMIM:605906
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11155
12
14
69285 bp
77.14
1177
11
10
12
LDB3 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