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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
TBX3 - T-box Transcription Factor 3
Alias:
UMS
XHL
TBX3-ISO
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个在系统发育上保守的基因家族的成员,这些基因共享一个共同的DNA结合结构域,即T-box。T-box基因编码参与调控发育过程的转录因子。这种蛋白质是一种转录抑制因子,被认为在四足动物前肢的前后轴上发挥作用。这个基因的突变导致尺骨乳腺综合征,影响四肢、顶浆腺、牙齿、毛发和生殖发育。这个基因的可变剪接导致三种转录变异体编码不同的异构体;然而,其中一个变异体的完整长度尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6926
ENSEMBL:ENSG00000135111
HGNC:11602
UNIPROT:O15119
OMIM:601621
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6926
2
7
13921 bp
79.39
345
1
17
12
TBX3 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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Type
Name
MGI
Strain of Origin
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Mutations
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CAS Number
Status
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Link
No data available
References Literature
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Year
IF
No Data Found!
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