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中文人类
TCF4 - Transcription Factor 4
Alias:
E2-2
FCD2
ITF2
PTHS
SEF2
CDG2T
FECD3
ITF-2
SEF-2
TCF-4
SEF2-1
SEF2-1A
SEF2-1B
SEF2-1D
bHLHb19
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这个基因编码转录因子4，一种基本的螺旋-环-螺旋转录因子。编码的蛋白质识别Ephrussi-box（'E-box'）结合位点（'CANNTG'）- 首先在免疫球蛋白增强子中识别到的基序。这个基因广泛表达，可能在神经系统发育中扮演重要角色。这个基因的缺陷是Pitt-Hopkins综合征的原因。此外，内含子CTG重复序列通常有10-37个重复单位，可以扩展到>50个重复单位，并导致Fuchs内皮角膜营养不良。已经描述了多种可变剪接转录变异体，它们编码不同的蛋白质。[由RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TCF4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
