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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
GAB2 - GRB2 Associated Binding Protein 2
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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GRB2相关结合蛋白(GAB)基因家族的成员。这些蛋白质含有pleckstrin同源性(PH)结构域,并与SHP2酪氨酸磷酸酶和GRB2适配器蛋白结合。它们作为适配器,通过细胞因子和生长因子受体以及T和B细胞抗原受体传递对刺激作出反应的各种信号。这个基因编码的蛋白质是高亲和力IgE受激活后磷脂酰肌醇-3激酶的主要激活物。已在这个基因中描述了两个可选择的剪接转录本,编码不同的异构体。[由RefSeq,2009年11月提供]
Related ID:
NCBI:9846
ENSEMBL:ENSG00000033327
HGNC:14458
UNIPROT:Q9UQC2
OMIM:606203
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9846
5
10
202528 bp
74.46
30
--
12
13
GAB2 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
Tissue-specific RNA expression
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References Literature
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