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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
NR2E3 - Nuclear Receptor Subfamily 2 Group E Member 3
Alias:
PNR
RNR
rd7
ESCS
RP37
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种蛋白质是一个大型核受体转录因子家族的成员,参与信号传导途径。核受体已被证明可以调节涉及胚胎发育的途径,以及维持成年细胞功能正常。这个家族的成员以其具有在DNA和配体结合中起作用的离散结构域为特征。这个基因编码一个视网膜核受体,这是一个依赖于配体的转录因子。这个基因的缺陷是导致增强的S锥体综合症的原因。已经发现了编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10002
ENSEMBL:ENSG00000278570
HGNC:7974
UNIPROT:Q9Y5X4
OMIM:604485
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10002
2
8
7700 bp
44.69
604
8
9
13
NR2E3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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