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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
PDK2 - Pyruvate Dehydrogenase Kinase 2
Alias:
PDHK2
PDKII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丙酮酸脱氢酶激酶家族的一员。编码的蛋白质磷酸化丙酮酸脱氢酶,下调线粒体丙酮酸脱氢酶复合物的活性。这个基因的过度表达可能在癌症和糖尿病中发挥作用。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq, 2010年12月提供]
Related ID:
NCBI:5164
ENSEMBL:ENSG00000005882
HGNC:8810
UNIPROT:Q15119
OMIM:602525
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5164
4
11
17416 bp
46.15
11
--
5
16
PDK2 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
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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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