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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
WWC2 - WW And C2 Domain Containing 2
Alias:
BOMB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个富含WW和C2结构域的蛋白质家族成员。这个家族的成员有两个N端的WW结构域,可以结合具有L/PPxY基序的靶蛋白质;一个内部的C2结构域用于结合膜;以及C端的α蛋白激酶C结合位点和III类PDZ结构域相互作用基序。这个家族的蛋白质可以形成同源和异源二聚体,并调节Hippo通路信号。[RefSeq, 2016年9月提供]
Related ID:
NCBI:80014
ENSEMBL:ENSG00000151718
HGNC:24148
UNIPROT:Q6AWC2
OMIM:620110
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80014
5
23
221521 bp
133.89
60
--
6
7
WWC2 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
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
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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