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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
PCBP2 - Poly(rC) Binding Protein 2
Alias:
HNRPE2
HNRNPE2
hnRNP-E2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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这个基因编码的蛋白质具有多种功能。它与PCBP-1和hnRNPK一起,成为细胞中主要的poly(rC)结合蛋白质之一。编码的蛋白质包含三个K-同源(KH)结构域,可能涉及RNA结合。与PCBP-1一起,该蛋白质还作为脊髓灰质炎病毒RNA的翻译协同激活因子发挥作用,通过与IRES的茎环IV进行序列特异性相互作用,通过结合其5'-端四瓣结构促进脊髓灰质炎病毒RNA复制。它还涉及15-脂氧合酶mRNA、人乳头瘤病毒16型L2 mRNA和甲型肝炎病毒RNA的翻译控制。该编码蛋白质也被认为在形成与α-珠蛋白mRNA稳定性相关的序列特异性的α-珠蛋白mRNP复合体中发挥作用。认为这种多外显子结构mRNA通过逆转录来生成PCBP-1,一个具有与PCBP2相似功能的无内含子基因。这个基因和PCBP-1具有同源基因(PCBP3和PCBP4),被认为是整个基因复制事件的结果。这个基因还有两个加工过的假基因(PCBP2P1和PCBP2P2)。已经发现这个基因的多个转录变异体编码不同的异构体。[RefSeq,2018年1月提供]
Related ID:
NCBI:5094
ENSEMBL:ENSG00000197111
HGNC:8648
UNIPROT:Q15366
OMIM:601210
Basic Information
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5094
7
15
29061 bp
38.58
--
--
6
27
PCBP2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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