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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
EZR - Ezrin
Alias:
CVL
CVIL
VIL2
HEL-S-105
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的细胞质外周膜蛋白在微绒毛中作为蛋白质酪氨酸激酶底物发挥作用。作为ERM蛋白家族的一员,这个蛋白在质膜和肌动蛋白细胞骨架之间起到中间作用。这个蛋白在细胞表面结构粘附、迁移和组织中扮演关键角色,并且与各种人类癌症有关。在这个基因上发现了一个位于染色体3的假基因。这个基因还有其他剪接变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7430
ENSEMBL:ENSG00000092820
HGNC:12691
UNIPROT:P15311
OMIM:123900
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7430
3
14
53621 bp
69.41
54
1
6
27
EZR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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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
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Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
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Year
IF
No Data Found!
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