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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
CITED4 - Cbp/p300 Interacting Transactivator With Glu/Asp Rich Carboxy-terminal Domain 4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个内含子缺失基因编码的蛋白质属于CITED家族的转录共激活因子,通过一个保守的32个氨基酸C端模体与包括CREB结合蛋白(CBP)和p300在内的多种蛋白质结合,调节基因转录。这种蛋白质还与转录因子AP2(TFAP2)相互作用,因此可能作为TFAP2的共激活因子发挥作用。在1p和19q染色体臂缺失的少突胶质瘤中观察到这种基因的高甲基化和转录下调,并且与少突胶质瘤患者的复发无病生存期和总生存期延长有关。[由RefSeq提供,2011年8月]
Related ID:
NCBI:163732
ENSEMBL:ENSG00000179862
HGNC:18696
UNIPROT:Q96RK1
OMIM:606815
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
163732
1
1
1310 bp
18.57
16
--
7
3
CITED4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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References Literature
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