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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
PI4K2B - Phosphatidylinositol 4-kinase Type 2 Beta
Alias:
PIK42B
PI4KIIB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个II型PI4激酶蛋白家族的成员。编码的蛋白质主要是细胞质的,并与其他蛋白质家族成员一起对总体PI4激酶活性做出贡献。这个蛋白质参与早期T细胞的激活。[由RefSeq提供,2016年12月]
Related ID:
NCBI:55300
ENSEMBL:ENSG00000038210
HGNC:18215
UNIPROT:Q8TCG2
OMIM:612101
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55300
3
10
45172 bp
54.74
22
--
3
10
PI4K2B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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