人类

PCSK2 - Proprotein Convertase Subtilisin/kexin Type 2

Alias:
PC2
NEC2
SPC2
NEC 2
NEC-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于枯草杆菌类似蛋白转化酶家族的成员,该家族包括通过分泌途径的调节或组成分支处理蛋白质和肽前体的蛋白酶。该蛋白质经历初始的自催化加工事件,并与内质网上的神经内分泌分泌蛋白相互作用,然后离开内质网并分选到分泌颗粒中,在那里在细胞内运输过程中被切割并催化激活。编码的蛋白酶被包装到密集核心分泌颗粒中并在神经内分泌系统和脑中表达。这个基因编码七个基本氨基酸特异性的成员之一,这些成员在单个或成对的碱性残基处切割其底物。它参与多肽激素前体和神经肽前体的蛋白水解激活。这个基因中的单核苷酸多态性可能增加心肌梗死和2型糖尿病的易感性。这个基因可能在肿瘤发展和进展中发挥作用。已经观察到了这个基因的替代剪接转录变异体,这些变异体编码多种异构体。[由RefSeq,2014年1月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3
12
258472 bp
70.56
12
--
5
9

PCSK2 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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