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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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人类
TFAP2A - Transcription Factor AP-2 Alpha
Alias:
AP-2
BOFS
AP2TF
TFAP2
AP-2alpha
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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是一种结合5'-GCCNNNGGC-3'共识序列的转录因子。编码的蛋白质可以作为一个同源二聚体或与相似家族成员形成一个异源二聚体。这个蛋白质激活某些基因的转录,同时抑制其他基因的转录。这个基因的缺陷是导致面裂耳廓综合征(BOFS)的原因。已经发现这个基因有三个编码不同异构体的转录变异体。[由RefSeq提供,2009年12月]
Related ID:
NCBI:7020
ENSEMBL:ENSG00000137203
HGNC:11742
UNIPROT:P05549
OMIM:107580
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7020
3
7
22983 bp
48.06
179
9
10
20
TFAP2A 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
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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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