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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
PTK2B - Protein Tyrosine Kinase 2 Beta
Alias:
PKB
PTK
CAKB
FAK2
PYK2
CADTK
FADK2
RAFTK
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个细胞质中的蛋白质酪氨酸激酶,参与钙离子诱导的离子通道调节和MAP激酶信号通路激活。编码的蛋白质可能代表一个重要的信号中间物,位于神经肽激活的受体或神经递质之间,这些物质增加钙离子通量并调节神经元活动的下游信号。该蛋白质在细胞内钙浓度增加、烟碱乙酰胆碱受体激活、膜去极化或蛋白激酶C激活后,会发生快速的酪氨酸磷酸化和激活。已发现该蛋白质与CRK相关底物、肾囊肿蛋白、与FAK相关的GTP酶调节剂以及GRB2的SH2结构域结合。该蛋白质是蛋白酪氨酸激酶FAK亚家族的一员,但与其他亚家族的激酶没有显著的序列相似性。已发现这个基因有四个转录变异体,编码两种不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2185
ENSEMBL:ENSG00000120899
HGNC:9612
UNIPROT:Q14289
OMIM:601212
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2185
43
31
148886 bp
115.88
52
--
16
48
PTK2B Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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