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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
BMP5 - Bone Morphogenetic Protein 5
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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,从而调节基因表达。编码的前原原蛋白经过蛋白水解加工,生成二硫键连接的同二聚体的每个亚基,该同二聚体在骨和软骨发育中发挥作用。这个基因的多态性可能与人类患者的骨关节炎有关。这个基因在不同的人类癌症中差异调节。这个基因编码可能经过类似蛋白水解加工的不同蛋白质异构体。[由RefSeq,2016年7月提供]
Related ID:
NCBI:653
ENSEMBL:ENSG00000112175
HGNC:1072
UNIPROT:P22003
OMIM:112265
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
653
5
7
121938 bp
51.74
27
--
26
9
BMP5 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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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
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Journal
Year
IF
No Data Found!
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