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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
NFKB2 - Nuclear Factor Kappa B Subunit 2
Alias:
p52
p100
H2TF1
LYT10
CVID10
LYT-10
NF-kB2
p49/p100
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码转录因子复合体核因子-kappa-B(NFkB)的一个亚基。NFkB复合体在许多细胞类型中表达,并作为涉及炎症和免疫功能的基因的中央激活子。这个基因编码的蛋白质可以发挥转录激活子或抑制子的作用,取决于其二聚化伙伴。p100全长蛋白质在翻译后过程中被加工成p52活性形式。已经观察到这个位点的染色体重排和易位在B细胞淋巴瘤中,其中一些可能导致融合蛋白的形成。这个基因在染色体18上有一个假基因。选择性剪接导致多个转录变异体。[RefSeq,2013年12月提供]
Related ID:
NCBI:4791
ENSEMBL:ENSG00000077150
HGNC:7795
UNIPROT:Q00653
OMIM:164012
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4791
6
23
8420 bp
96.75
532
3
16
29
NFKB2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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