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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
TCF3 - Transcription Factor 3
Alias:
E2A
E47
p75
AGM8
ITF1
VDIR
AGM8A
AGM8B
TCF-3
bHLHb21
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于E蛋白(I类)家族的螺旋-环-螺旋转录因子。E蛋白通过与目标基因上的调节E盒序列作为异源二聚体或同源二聚体结合来激活转录,并被与DNA结合抑制子(IV类)螺旋-环-螺旋蛋白异源二聚化所抑制。E蛋白在淋巴样生成中起着关键作用,且编码的蛋白质是B和T淋巴细胞发育所必需的。这个基因的缺失或编码蛋白质的活性减弱可能参与淋巴恶性肿瘤的发生。这个基因也参与与淋巴恶性肿瘤相关的几项染色体易位,包括前B细胞急性淋巴细胞白血病(t(1;19),与PBX1),儿童白血病(t(19;19),与TFPT)和急性白血病(t(12;19),与ZNF384)。已经观察到这个基因的替代剪接转录变异体编码多种异构体,并且这个基因的假基因位于染色体9的短臂上。[由RefSeq,2011年9月提供]
Related ID:
NCBI:6929
ENSEMBL:ENSG00000071564
HGNC:11633
UNIPROT:P15923
OMIM:147141
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6929
50
19
43324 bp
67.60
707
5
25
33
TCF3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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