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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
BHLHE40 - Basic Helix-loop-helix Family Member E40
Alias:
DEC1
HLHB2
BHLHB2
Clast5
SHARP2
STRA13
Stra14
SHARP-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在各种组织中表达的基本螺旋-环-螺旋蛋白。编码的蛋白质可以与ARNTL相互作用或竞争PER1启动子中的E-box结合位点,从而抑制CLOCK/ARNTL对PER1的转激活作用。这个基因被认为参与生物钟和细胞分化的控制。[RefSeq,2014年2月提供]
Related ID:
NCBI:8553
ENSEMBL:ENSG00000134107
HGNC:1046
UNIPROT:O14503
OMIM:604256
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8553
1
5
5887 bp
45.51
12
--
13
20
BHLHE40 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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