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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
LMTK2 - Lemur Tyrosine Kinase 2
Alias:
BREK
KPI2
LMR2
cprk
KPI-2
hBREK
AATYK2
PPP1R100
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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蛋白激酶超家族和蛋白质酪氨酸激酶家族。它包含N-端跨膜螺旋和一个具有丝氨酸/苏氨酸/酪氨酸激酶活性的长C-端胞质尾。这个蛋白质与几种其他蛋白质相互作用,如抑制剂-2(Inh2)、蛋白磷酸酶-1(PP1C)、p35和肌球蛋白VI。它可以对其它蛋白质进行磷酸化,并且在与细胞周期蛋白依赖的激酶5(cdk5)/p35复合物相互作用时,自身也会被磷酸化。这个蛋白质参与神经生长因子(NGF)-TrkA信号传导,并在内质网膜包覆中扮演关键角色。小鼠研究提示这个蛋白质在精母细胞发生中具有基本功能。[RefSeq,2009年10月提供]
Related ID:
NCBI:22853
ENSEMBL:ENSG00000164715
HGNC:17880
UNIPROT:Q8IWU2
OMIM:610989
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22853
2
14
102777 bp
164.90
62
--
4
11
LMTK2 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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