人类

INSR - Insulin Receptor

Alias:
HHF5
CD220
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种受体酪氨酸激酶家族的蛋白质成员。编码的前原蛋白在蛋白水解过程中被加工成α和β亚基,形成异四聚体受体。胰岛素或其他配体结合到这个受体上,激活胰岛素信号通路,该通路调节葡萄糖的摄取和释放,以及碳水化合物的合成和储存,脂质和蛋白质。这个基因中的突变导致了遗传性严重胰岛素抵抗综合征,包括A型胰岛素抵抗综合征、Donohue综合征和Rabson-Mendenhall综合征。可变剪接产生了多种转录变异体。[RefSeq,2015年10月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4
22
182150 bp
156.33
601
7
13
125

INSR 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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