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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
BMP15 - Bone Morphogenetic Protein 15
Alias:
ODG2
POF4
GDF9B
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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)蛋白质超家族的配体。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。编码的前原蛋白在蛋白水解作用下被加工成具有二硫键连接的同二聚体或异二聚体的亚基,或与相关的蛋白质生长分化因子9(GDF9)形成二聚体。这个蛋白在卵母细胞成熟和卵泡发育中发挥作用,通过激活颗粒细胞来实现。这个基因的缺陷是导致卵巢发育不良的原因,并与早发性卵巢衰竭有关。[RefSeq,2016年8月提供]
Related ID:
NCBI:9210
ENSEMBL:ENSG00000130385
HGNC:1068
UNIPROT:O95972
OMIM:300247
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9210
1
2
5907 bp
45.05
47
2
2
13
BMP15 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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Regulation
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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
No Data Found!
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