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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
HNRNPH2 - Heterogeneous Nuclear Ribonucleoprotein H2
Alias:
FTP3
MRXSB
NRPH2
HNRPH'
HNRPH2
hnRNPH'
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于泛表达异质核核糖核蛋白(hnRNPs)亚家族。hnRNPs是RNA结合蛋白,并与异质核RNA(hnRNA)形成复合物。这些蛋白与核中的预mRNA相关联,似乎影响预mRNA的加工和mRNA代谢和运输的其他方面。虽然所有hnRNPs都在核中存在,但一些似乎在核和细胞质之间穿梭。hnRNP蛋白具有独特的核酸结合特性。这个基因编码的蛋白质具有三个重复的拟RRM结构域,可以结合RNA。它与家族成员HNRPH1非常相似。这个基因被认为与Fabray病和X连锁无丙种球蛋白血症表型有关。可变剪接导致编码相同蛋白质的多种转录变异体。已经观察到这个基因座和核糖体蛋白L36a基因之间的读穿转录。[RefSeq,2011年1月提供]
Related ID:
NCBI:3188
ENSEMBL:ENSG00000126945
HGNC:5042
UNIPROT:P55795
OMIM:300610
Basic Information
NCBI
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MW (kDa)
Mutations
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Reference
3188
2
2
5912 bp
49.26
32
4
6
19
HNRNPH2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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