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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
OSBP2 - Oxysterol Binding Protein 2
Alias:
HLM
ORP4
ORP-4
OSBPL1
OSBPL4
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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包含一个磷脂酰肌醇蛋白同源性(PH)结构域和一个氧化固醇结合区域。它可以结合氧化固醇,如7-酮胆固醇,并可能抑制其细胞毒性。已经观察到了这个基因的替代剪接转录变异体,它们编码多种异构体。[RefSeq,2013年9月提供]
Related ID:
NCBI:23762
ENSEMBL:ENSG00000184792
HGNC:8504
UNIPROT:Q969R2
OMIM:606729
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23762
6
14
214032 bp
101.27
38
--
3
7
OSBP2 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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