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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
HEY2 - Hes Related Family BHLH Transcription Factor With YRPW Motif 2
Alias:
GRL
CHF1
HRT2
HERP1
HESR2
bHLHb32
GRIDLOCK
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个基本的螺旋-环-螺旋(bHLH)类型的转录因子家族,该家族与分裂增强子相关(HESR)成员。编码的蛋白质形成同源或异源二聚体,定位在细胞核中,并与组蛋白去乙酰化酶复合物相互作用,以抑制转录。这个基因的表达受到Notch信号传导途径的诱导。小鼠中两个相似且冗余的基因对于胚胎心血管发育是必需的,也被认为与神经生成和体节发生有关。已经发现了可变剪接的转录本变异体,但其生物学有效性尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23493
ENSEMBL:ENSG00000135547
HGNC:4881
UNIPROT:Q9UBP5
OMIM:604674
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23493
3
5
11638 bp
35.81
19
1
11
10
HEY2 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
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Cell-specific RNA expression
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Abundance
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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Year
IF
No Data Found!
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