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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
SH3BP2 - SH3 Domain Binding Protein 2
Alias:
3BP2
CRBM
CRPM
3BP-2
RES4-23
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质具有N端pleckstrin同源性(PH)结构域,一个SH3结合脯氨酸丰富区域,以及一个C端的SH2结构域。该蛋白质与几种蛋白质的SH3结构域结合,包括ABL1和SYK酪氨酸激酶,并作为细胞质接头蛋白,正向调节T细胞、自然杀伤(NK)和嗜碱性细胞中的转录活性。这个基因的突变导致天使面谱。已经发现这个基因的多个转录变异体,编码不同的异构体。[RefSeq,2009年3月提供]
Related ID:
NCBI:6452
ENSEMBL:ENSG00000087266
HGNC:10825
UNIPROT:P78314
OMIM:602104
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6452
4
13
48012 bp
62.24
641
1
8
12
SH3BP2 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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