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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
CBX2 - Chromobox 2
Alias:
M33
CDCA6
SRXY5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码多梳蛋白复合物的组成部分,该复合物通过染色质重塑和组蛋白修饰来维持发育过程中许多基因的转录抑制状态。在小鼠中破坏这个基因会导致雄性到雌性性腺性别逆转。这个基因的突变也与人类性腺发育异常有关。已经注意到这个基因有不同的剪接转录变异体,它们编码不同的异构体。[RefSeq,2010年3月提供]
Related ID:
NCBI:84733
ENSEMBL:ENSG00000173894
HGNC:1552
UNIPROT:Q14781
OMIM:602770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84733
5
5
10673 bp
56.08
90
2
10
11
CBX2 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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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
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Status
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References Literature
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