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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
TEK - TEK Receptor Tyrosine Kinase
Alias:
TIE2
VMCM
GLC3E
TIE-2
VMCM1
CD202B
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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蛋白质酪氨酸激酶Tie2家族的受体。编码的蛋白质具有一个独特的细胞外区域,包含两个免疫球蛋白样结构域,三个表皮生长因子(EGF)样结构域和三个纤维连接蛋白型III重复序列。配体血管生成素-1结合到这个受体上,并介导在胚胎血管发育中起作用的信号通路。这个基因的突变与皮肤和粘膜的遗传性静脉畸形有关。可变剪接导致多个转录变异体。这个基因的其他可变剪接转录变异体已经被描述过,但它们的全长性质尚不清楚。[由RefSeq,2014年2月提供]
Related ID:
NCBI:7010
ENSEMBL:ENSG00000120156
HGNC:11724
UNIPROT:Q02763
OMIM:600221
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7010
5
23
121038 bp
125.83
310
6
16
38
TEK Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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