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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
MED20 - Mediator Complex Subunit 20
Alias:
SRB2
TRFP
PRO0213
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个介体复合物(也称为TRAP、SMCC、DRIP或ARC)的成分,介体复合物被认为是对几乎所有基因的表达所需的转录共激活子复合物。介体复合物被转录激活子或核受体招募,通过与RNA聚合酶II相互作用并促进转录前起始复合物的形成来诱导基因表达。这个基因的突变与一种新生儿起病的神经退行性运动障碍有关。已经识别出可变剪接的转录本变异体。[RefSeq,2015年3月提供]
Related ID:
NCBI:9477
ENSEMBL:ENSG00000124641
HGNC:16840
UNIPROT:Q9H944
OMIM:612915
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9477
4
4
15786 bp
23.22
15
--
1
10
MED20 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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