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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
WBP2 - WW Domain Binding Protein 2
Alias:
WBP-2
GRAMD6
DFNB107
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
球状WW结构域由38至40个半保守的氨基酸组成,这些氨基酸被具有不同功能的蛋白质共享,包括结构、调节和信号传导蛋白质。该结构域通过结合聚脯氨酸配体参与调节蛋白质-蛋白质相互作用。该基因编码一种WW结构域结合蛋白,该蛋白是雌激素受体α和孕激素受体的转录协同激活子。该基因的缺陷与听力损害有关。[RefSeq,2017年1月提供]
Related ID:
NCBI:23558
ENSEMBL:ENSG00000132471
HGNC:12738
UNIPROT:Q969T9
OMIM:606962
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23558
4
8
10738 bp
28.09
67
2
4
9
WBP2 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
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Status
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Link
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References Literature
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