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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
APBB2 - Amyloid Beta Precursor Protein Binding Family B Member 2
Alias:
FE65L
FE65L1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质与淀粉样前体蛋白(A4)和淀粉样前体样蛋白2的细胞质结构域相互作用。这个蛋白质包含两个磷酸酪氨酸结合(PTB)结构域,被认为在信号传导中发挥作用。这个基因的多态性与阿尔茨海默病有关。可选的剪接导致多个转录变异体。[由RefSeq,2009年10月提供]
Related ID:
NCBI:323
ENSEMBL:ENSG00000163697
HGNC:582
UNIPROT:Q92870
OMIM:602710
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
323
55
18
404516 bp
83.37
32
--
7
13
APBB2 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
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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
No Data Found!
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