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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
NR1I2 - Nuclear Receptor Subfamily 1 Group I Member 2
Alias:
BXR
PAR
PRR
PXR
SAR
SXR
ONR1
PAR1
PAR2
PARq
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因产物属于核受体超家族,其成员是特征明显的转录因子,具有配体结合域和DNA结合域。编码的蛋白质是细胞色素P450基因CYP3A4的转录调节因子,作为与9-顺式视黄酸受体RXR的异源二聚体,结合到CYP3A4启动子的响应元素上。它由一系列诱导CYP3A4的化合物激活,包括地塞米松和利福平。已经描述了这个基因的几个可变剪接转录本,编码不同的异构体,其中一些使用非AUG(CUG)翻译起始密码子。然而,还存在其他转录变异体,但它们尚未完全特征化。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8856
ENSEMBL:ENSG00000144852
HGNC:7968
UNIPROT:O75469
OMIM:603065
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8856
3
9
36387 bp
49.76
29
--
14
16
NR1I2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
MGI
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Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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