人类

TBX5 - T-box Transcription Factor 5

Alias:
HOS
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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。这个基因与相关家族成员T-box 3(尺骨乳腺综合征)在人染色体12上紧密连锁。编码的蛋白质可能在心脏发育和肢体特征指定中发挥作用。这个基因的突变与Holt-Oram综合征有关,这是一种影响心脏和上肢的发育紊乱。已描述了这个基因的几个转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4
9
54532 bp
57.71
588
9
9
17

TBX5 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

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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Sequence
Comparison
Al agent
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