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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
BHLHE22 - Basic Helix-loop-helix Family Member E22
Alias:
Beta3
BHLHB5
Beta3a
CAGL85
TNRC20
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于基本螺旋-环-螺旋(bHLH)家族的转录因子,调节细胞命运决定、增殖和分化。在鼠类中,一个类似的蛋白是耳蜗背侧核发育所必需的,被认为在参与感觉输入的神经元分化中发挥作用。该鼠类蛋白还在视网膜发育中起作用。[RefSeq,2016年10月提供]
Related ID:
NCBI:27319
ENSEMBL:ENSG00000180828
HGNC:11963
UNIPROT:Q8NFJ8
OMIM:613483
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27319
1
1
3263 bp
37.00
27
--
8
2
BHLHE22 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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
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Alphabetical
Cell-specific RNA expression
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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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