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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
PRDM2 - PR/SET Domain 2
Alias:
RIZ
KMT8
RIZ1
RIZ2
KMT8A
MTB-ZF
HUMHOXY1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个肿瘤抑制基因是核组蛋白/蛋白质甲基转移酶超家族的一个成员。它编码一个锌指蛋白,可以与视网膜母细胞瘤蛋白、雌激素受体和血红素氧合酶-1基因的TPA反应元件(MTE)结合。尽管该蛋白质的功能尚未完全确定,但它可能(1)在神经元分化和视网膜母细胞瘤的发病过程中发挥转录调节作用,(2)作为血红素氧合酶-1基因的转录激活剂,(3)是雌激素作用的特异性效应器。已经发现了这个基因的多种转录变体,编码不同的等位基因。[由RefSeq提供,2008年10月]
Related ID:
NCBI:7799
ENSEMBL:ENSG00000116731
HGNC:9347
UNIPROT:Q13029
OMIM:601196
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7799
14
10
124892 bp
188.91
81
--
3
16
PRDM2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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