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
PTPN11 - Protein Tyrosine Phosphatase Non-receptor Type 11
Alias:
CFC
NS1
JMML
SHP2
BPTP3
PTP2C
METCDS
PTP-1D
SH-PTP2
SH-PTP3
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
这个基因编码的蛋白质是蛋白质酪氨酸磷酸酶(PTP)家族的一员。PTP被认为是调节各种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和癌基因转化。这个PTP包含两个串联的Src同源2结构域,作为磷酸酪氨酸结合结构域,并介导该PTP与其底物相互作用。这个PTP在大多数组织中广泛表达,并在各种细胞信号事件中发挥调节作用,这些事件对于多种细胞功能非常重要,如有丝分裂激活、代谢控制、转录调节和细胞迁移。这个基因的突变是导致诺尼汉综合征和急性粒细胞白血病的原因。[RefSeq,2016年8月提供]
Related ID:
NCBI:5781
ENSEMBL:ENSG00000179295
HGNC:9644
UNIPROT:Q06124
OMIM:176876
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5781
5
16
90972 bp
68.01
832
23
23
73
PTPN11 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