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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
CABP2 - Calcium Binding Protein 2
Alias:
DFNB93
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于一个与钙结合蛋白的亚家族,与钙调素相似。这些家庭成员可能能刺激钙调素依赖的激酶II和蛋白磷酸酶钙神经炎。钙结合蛋白是钙介导的细胞信号转导的重要成分。已发现这个基因的两个转录变异体,编码不同的异构体。[RefSeq,2016年1月提供]
Related ID:
NCBI:51475
ENSEMBL:ENSG00000167791
HGNC:1385
UNIPROT:Q9NPB3
OMIM:607314
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51475
2
7
4535 bp
24.48
88
2
6
8
CABP2 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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
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