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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
NR2C2 - Nuclear Receptor Subfamily 2 Group C Member 2
Alias:
TR4
TAK1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于核激素受体家族的蛋白质。这个家族的成员作为配体激活的转录因子,并在许多生物过程中发挥作用,如发育、细胞分化和体内平衡。激活的受体/配体复合物被转移到核中,在那里它结合到目标基因的激素响应元素上。这个基因编码的蛋白质在保护细胞免受氧化应激和电离辐射诱导的损伤中发挥作用。在老鼠中缺乏类似的基因会导致生长迟缓、严重的脊柱弯曲、次级不育、过早衰老和前列腺上皮内瘤(PIN)的发展。可选的剪接导致编码不同异型体的多种转录变异体。[由RefSeq,2014年4月提供]
Related ID:
NCBI:7182
ENSEMBL:ENSG00000177463
HGNC:7972
UNIPROT:P49116
OMIM:601426
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7182
25
14
101691 bp
65.41
4
--
11
20
NR2C2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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References Literature
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