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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
CLOCK - Clock Circadian Regulator
Alias:
KAT13D
bHLHe8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质在调节昼夜节律中起核心作用。该蛋白质编码一个基本的螺旋-环-螺旋(bHLH)家族的转录因子,并具有DNA结合组蛋白乙酰转移酶活性。编码的蛋白质与ARNTL(BMAL1)形成异源二聚体,结合周期(PER1, PER2, PER3)和隐花色素(CRY1, CRY2)基因上游的E-盒增强子元素,并激活这些基因的转录。PER和CRY蛋白异源二聚化,并通过与CLOCK/ARNTL复合物在反馈环路中相互作用,抑制它们自己的转录。这个基因的多态性可能与某些人群的行为变化以及肥胖和代谢综合症相关。可选的剪接导致多个转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:9575
ENSEMBL:ENSG00000134852
HGNC:2082
UNIPROT:O15516
OMIM:601851
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9575
17
23
119007 bp
95.30
28
--
11
29
CLOCK 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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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
No data available
References Literature
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Journal
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IF
No Data Found!
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