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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
BMX - BMX Non-receptor Tyrosine Kinase
Alias:
ETK
PSCTK2
PSCTK3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于Tec激酶家族的非受体酪氨酸激酶。该蛋白质包含一个PH样结构域,通过结合磷酸atylinositol 3,4,5-三磷酸(PIP3)来调节膜定位,以及一个SH2结构域,可以结合酪氨酸磷酸化蛋白质,并在信号传导中发挥作用。该蛋白质与几个信号传导途径有关,包括Stat途径,并调节几种类型癌细胞的不同化和肿瘤形成能力。已经发现这个基因的替代剪接转录变异体。[RefSeq,2016年3月提供]
Related ID:
NCBI:660
ENSEMBL:ENSG00000102010
HGNC:1079
UNIPROT:P51813
OMIM:300101
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
660
4
19
55713 bp
78.01
17
--
7
17
BMX Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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No data available
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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