人类

TSC2 - TSC Complex Subunit 2

Alias:
LAM
TSC4
PPP1R160
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个肿瘤抑制基因,编码生长抑制蛋白tuberin。Tuberin与hamartin相互作用形成TSC蛋白复合物,该复合物在控制细胞生长中发挥作用。这个TSC蛋白复合物负调控哺乳动物雷帕霉素靶标1(mTORC1)信号通路,该信号通路是合成代谢细胞生长的主要调节因子。这个基因的突变与结节性硬化症和淋巴管平滑肌瘤病有关。[由RefSeq提供,2022年5月]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
47
42
41507 bp
200.61
9437
14
18
64

TSC2 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

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!
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Mutation Direct
Sequence
Comparison
Al agent
Tutorials
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