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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
IBSP - Integrin Binding Sialoprotein
Alias:
BSP
BNSP
SP-II
BSP-II
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Description
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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是骨基质的主要结构蛋白。它约占人类骨骼中非胶原蛋白的12%,并在骨骼相关细胞类型中合成,包括增生性软骨细胞、成骨细胞、骨细胞和破骨细胞。其唯一的合成骨外部位是滋养层。该蛋白质通过其酸性氨基酸簇与钙和羟磷灰石结合,并通过识别Vitronectin受体的RGD序列介导细胞附着。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3381
ENSEMBL:ENSG00000029559
HGNC:5341
UNIPROT:P21815
OMIM:147563
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3381
1
7
12882 bp
35.15
7
--
5
7
IBSP 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
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Interactions
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Acting
Regulation
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Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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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
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Journal
Year
IF
No Data Found!
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