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
MMP2 - Matrix Metallopeptidase 2
Alias:
CLG4
MONA
CLG4A
MMP-2
TBE-1
MMP-II
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
这个基因是基质金属蛋白酶(MMP)基因家族的成员,这些基因是依赖于锌的酶,能够切割细胞外基质的成分和参与信号传导的分子。这个基因编码的蛋白质是一种明胶酶A,属于IV型胶原酶,其催化位点含有三个纤连蛋白类型II重复序列,可以结合变性的IV型和V型胶原以及弹性蛋白。与大多数MMP家族成员不同,这个蛋白质的激活可以在细胞膜上进行。这个酶可以通过蛋白酶在细胞外激活,或者通过其与S-谷胱甘肽结合在细胞内激活,而不需要去除前域。这个蛋白质被认为涉及多个途径,包括在神经系统、子宫内膜月经破裂、血管化调节和转移中的作用。这个基因的突变与温彻斯特综合征和结节病-关节炎-骨溶解(NAO)综合征有关。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2014年10月提供]
Related ID:
NCBI:4313
ENSEMBL:ENSG00000087245
HGNC:7166
UNIPROT:P08253
OMIM:120360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4313
5
13
27862 bp
73.88
313
2
5
38
MMP2 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