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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
BMP2 - Bone Morphogenetic Protein 2
Alias:
BDA2
BMP2A
SSFSC
SSFSC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种分泌性的TGF-beta(转化生长因子-β)超家族蛋白质的配体。这个家族的配体结合各种TGF-beta受体,导致SMAD家族转录因子的招募和激活,从而调控基因表达。编码的前原原蛋白在蛋白水解过程中被加工,生成二硫键连接的同源二聚体的各个亚基,该二聚体在骨和软骨发育中发挥作用。这个基因下游的调控区域的重复复制导致了一种短指畸形,其特征是患者的手指和脚趾畸形。[RefSeq,2016年7月提供]
Related ID:
NCBI:650
ENSEMBL:ENSG00000125845
HGNC:1069
UNIPROT:P12643
OMIM:112261
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
650
1
3
12561 bp
44.70
138
7
12
20
BMP2 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
Reset
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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