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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
COBL - Cordon-bleu WH2 Repeat Protein
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有WH2结构域的蛋白质(WASP,Wiskott-Aldrich综合征蛋白,同源域2),该结构域与肌动蛋白相互作用。编码的肌动蛋白调节蛋白对刷状缘微绒毛的生长和组装是必要的,刷状缘微绒毛在维持肠道内稳态中发挥作用。小鼠中类似的蛋白质在脑桥神经管闭合中发挥作用。这个基因的一个假基因位于染色体X上。[由RefSeq,2016年10月提供]
Related ID:
NCBI:23242
ENSEMBL:ENSG00000106078
HGNC:22199
UNIPROT:O75128
OMIM:610317
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23242
23
13
300598 bp
135.62
75
--
5
10
COBL 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)
Exon Count
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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Acting
Regulation
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No data available
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
Title
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Journal
Year
IF
No Data Found!
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