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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
PIK3CA - Phosphatidylinositol-4,5-bisphosphate 3-kinase Catalytic Subunit Alpha
Alias:
MCM
CCM4
CWS5
MCAP
PI3K
CLAPO
CLOVE
MCMTC
PI3K-alpha
p110-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
磷脂酰肌醇3-激酶由一个85kDa的调节亚单位和一个110kDa的催化亚单位组成。这个基因编码的蛋白质代表催化亚单位,它使用ATP对PtdIns、PtdIns4P和PtdIns(4,5)P2进行磷酸化。这个基因已经被发现具有致癌性,并与宫颈癌有关。这个基因的一个假基因已经在染色体22上定义。[由RefSeq于2016年4月提供]
Related ID:
NCBI:5290
ENSEMBL:ENSG00000121879
HGNC:8975
UNIPROT:P42336
OMIM:171834
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5290
2
21
91968 bp
124.28
1117
43
21
36
PIK3CA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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