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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
CBLB - Cbl Proto-oncogene B
Alias:
Cbl-b
RNF56
Nbla00127
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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E3泛素-蛋白连接酶,通过将泛素从E2泛素结合酶转移到底物,促进蛋白酶体介导的蛋白质降解。编码的蛋白质参与通过限制T细胞受体、B细胞受体和高亲和力免疫球蛋白ε受体的激活,来调节免疫反应。研究表明,这个基因参与抗真菌宿主防御,其抑制导致真菌杀伤增加。操纵这个基因可能在实施针对多种疾病的免疫疗法中有益,包括癌症、自身免疫性疾病、过敏和感染。[RefSeq, 2017年9月提供]
Related ID:
NCBI:868
ENSEMBL:ENSG00000114423
HGNC:1542
UNIPROT:Q13191
OMIM:604491
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
868
35
19
213989 bp
109.45
51
1
9
23
CBLB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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