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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
YTHDF2 - YTH N6-methyladenosine RNA Binding Protein F2
Alias:
DF2
CAHL
HGRG8
NY-REN-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了包含 YTH (YT521-B 相似性) 超家族的 YTH 结构域的成员。YTH 结构域在真核生物中是典型的,并且在植物中特别丰富。YTH 结构域通常位于蛋白质序列的中间位置,可能在与 RNA 结合中发挥作用。除了 YTH 结构域外,这个蛋白质还具有富含脯氨酸的区域,可能参与信号转导。在这个基因的一个内含子中已经鉴定出一个富含 Alu 的区域,被认为与人类寿命有关。此外,急性髓系白血病患者中观察到这个基因与位于 21 号染色体上的 Runx1 (AML1) 基因之间的相互易位。这个基因最初被映射到 14 号染色体上,后来发现这是一个假基因。在这个基因中已经鉴定出编码不同异构体的可变剪接转录变体。[由 RefSeq 提供,2012 年 10 月]
Related ID:
NCBI:51441
ENSEMBL:ENSG00000198492
HGNC:31675
UNIPROT:Q9Y5A9
OMIM:610640
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
51441
3
5
33152 bp
62.33
14
--
15
39
YTHDF2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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