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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
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中文
人类
C2 - Complement C2
Alias:
CO2
ARMD14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
补体系统经典途径的成分C2是一种血清糖蛋白,其功能是作为补体系统的一部分。激活的C1将C2切割成C2a和C2b。丝氨酸蛋白酶C2a然后与补体因子4b结合,形成C3或C5转化酶。C2缺乏已被报道与某些自身免疫性疾病有关,而此基因中的SNPs与对年龄相关性黄斑变性的易感性的改变有关。此基因定位在染色体6短臂的MHC的III类区域。可选的剪接导致编码不同异构体的多个转录变异体。其他转录变异体已在出版物中描述,但其完整序列尚未确定。[RefSeq,2009年3月提供]
Related ID:
NCBI:717
ENSEMBL:ENSG00000166278
HGNC:1248
UNIPROT:P06681
OMIM:613927
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
717
6
18
47890 bp
83.27
303
3
3
25
C2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Interactions
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Residues
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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