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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
DEAF1 - DEAF1 Transcription Factor
Alias:
SPN
NUDR
VSVS
MRD24
ZMYND5
NEDHELS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有锌指结构的蛋白质,作为转录调节因子。编码的蛋白质结合其自身的启动子以及几个目标基因的启动子。这个蛋白质的活性在胚胎发育的调节中具有重要意义。这个基因的突变已经在患有常染色体显性认知障碍的个体中发现。可选的剪接导致多个转录变异体。[由RefSeq,2014年6月提供]
Related ID:
NCBI:10522
ENSEMBL:ENSG00000177030
HGNC:14677
UNIPROT:O75398
OMIM:602635
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10522
8
12
62864 bp
59.33
644
5
7
18
DEAF1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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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