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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
WASF2 - WASP Family Member 2
Alias:
IMD2
SCAR2
WASF4
WAVE2
dJ393P12.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码Wiskott-Aldrich综合症蛋白家族的一个成员。基因产物是一种蛋白质,它形成一个多蛋白复合体,将受体激酶和肌动蛋白连接起来。所有家族成员通过一个C末端的verprolin同源域与肌动蛋白结合。多蛋白复合体用于传递涉及细胞形状、运动或功能变化的信号。根据最近的基因组序列比较,发表的映射位置(PMID:10381382)已被更改,这表明表达的基因位于染色体1上,而一个假基因可能位于染色体X上。这个基因发现了两种转录变体,编码不同的等位基因。[由RefSeq提供,2011年1月]
Related ID:
NCBI:10163
ENSEMBL:ENSG00000158195
HGNC:12733
UNIPROT:Q9Y6W5
OMIM:605875
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10163
2
9
85938 bp
54.28
19
--
8
15
WASF2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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