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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
GATAD2B - GATA Zinc Finger Domain Containing 2B
Alias:
p68
GANDS
MRD18
P66beta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个锌指蛋白转录抑制子。编码的蛋白质是甲基-CpG-结合蛋白-1复合体的一部分,通过脱乙酰化甲基化的核小体来抑制基因表达。这个基因的突变与智力障碍和与认知障碍相关的异常外貌特征有关。[由RefSeq,2016年6月提供]
Related ID:
NCBI:57459
ENSEMBL:ENSG00000143614
HGNC:30778
UNIPROT:Q8WXI9
OMIM:614998
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57459
3
11
118248 bp
65.26
396
1
4
27
GATAD2B 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
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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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