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
C4B - Complement C4B (Chido Blood Group)
Alias:
CH
C4F
CO4
C4B1
C4B2
C4B3
C4B5
C4BD
C4B12
C4B_2
CPAMD3
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
这个基因编码补体因子4的基本形式,与C4A基因一起,是经典激活途径的一部分。该蛋白作为单链前体表达,在分泌前被蛋白水解切割成α、β和γ链的三聚体。三聚体为抗原-抗体复合物与其他补体成分之间的相互作用提供表面。α链可能被切割以释放C4过敏毒素,这是一种局部炎症的介质。这个蛋白质的缺乏与系统性红斑狼疮有关。这个基因位于染色体6上的主要组织相容性复合体(MHC)III类区域。这个基因簇存在不同的单倍型,使得个体可能有一个、两个或三个拷贝的此基因。此外,由于第9内含子中存在或缺失一个6.4kb的内源性HERV-K逆转录病毒,这个基因存在长形式和短形式。[由RefSeq,2020年5月提供]
Related ID:
NCBI:721
ENSEMBL:ENSG00000224389
HGNC:1324
UNIPROT:P0C0L5
OMIM:120820
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
721
1
41
20624 bp
192.78
28
3
8
43
C4B 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