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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
CD40 - CD40 Molecule
Alias:
p50
Bp50
CDW40
TNFRSF5
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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TNF受体超家族的成员。编码的蛋白质是免疫系统抗原呈递细胞上的受体,对于调节各种免疫和炎症反应至关重要,包括T细胞依赖的免疫球蛋白类别转换、记忆B细胞发育和生发中心形成。AT钩转录因子AKNA被报道协调地调节这个受体及其配体的表达,这可能对于同型细胞相互作用非常重要。衔接蛋白TNFR2与这个受体相互作用,作为信号传导的媒介。这个受体及其配体的相互作用被证明是淀粉样β诱导的小胶质细胞激活所必需的,因此被认为是在阿尔茨海默病病理过程中的早期事件。影响这个基因的突变是导致常染色体隐性超IgM免疫缺陷3型(HIGM3)的原因。这个基因的多个可变剪接转录变异体已被报道,编码不同的异构体。[RefSeq,2014年11月提供]
Related ID:
NCBI:958
ENSEMBL:ENSG00000101017
HGNC:11919
UNIPROT:P25942
OMIM:109535
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
958
11
9
11545 bp
30.62
163
1
13
20
CD40 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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