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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
MAP4K2 - Mitogen-activated Protein Kinase Kinase Kinase Kinase 2
Alias:
GCK
BL44
RAB8IP
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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是丝氨酸/苏氨酸蛋白激酶家族的成员。尽管这种激酶存在于许多组织中,但其表达在淋巴滤泡中仅限于生发中心细胞,可能参与B细胞的分化。这种激酶可以由TNF-α激活,并被证明能特异性地激活MAP激酶。这种激酶还发现与TNF受体相关因子2(TRAF2)相互作用,TRAF2涉及MAP3K1/MEKK1的激活。选择性剪接产生多种转录变异体。[RefSeq,2015年4月提供]
Related ID:
NCBI:5871
ENSEMBL:ENSG00000168067
HGNC:6864
UNIPROT:Q12851
OMIM:603166
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5871
2
32
18297 bp
91.56
35
--
1
15
MAP4K2 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
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