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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
PIK3C2A - Phosphatidylinositol-4-phosphate 3-kinase Catalytic Subunit Type 2 Alpha
Alias:
CPK
OCSKD
PI3-K-C2A
PI3K-C2alpha
PI3K-C2-alpha
PI3-K-C2(ALPHA)
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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属于磷酸肌醇3-激酶(PI3K)家族。PI3-激酶在涉及细胞增殖、癌基因转化、细胞生存、细胞迁移和细胞内蛋白质转运的信号通路中发挥作用。这个蛋白质包含一个脂质激酶催化结构域以及一个C-末端C2结构域,这是II类PI3-激酶的特征。C2结构域作为依赖于钙的磷脂结合基序,介导蛋白质向膜的转运,也可能介导蛋白质-蛋白质相互作用。这个蛋白质的PI3-激酶活性不受纳摩尔水平抑制剂wortmanin的影响。这个蛋白质已被证明能够被胰岛素激活,并可能涉及整合素依赖的信号传导。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5286
ENSEMBL:ENSG00000011405
HGNC:8971
UNIPROT:O00443
OMIM:603601
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
5286
6
33
121412 bp
190.68
303
1
12
26
PIK3C2A Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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