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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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人类
NR3C1 - Nuclear Receptor Subfamily 3 Group C Member 1
Alias:
GR
GCR
GRL
GCCR
GCRST
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
该基因编码糖皮质激素受体,可以作为结合糖皮质激素响应基因启动子中的糖皮质激素响应元素来激活其转录的转录因子,也可以作为其他转录因子的调节剂。这种受体通常在细胞质中被发现,但在配体结合后,被运输到细胞核中。它参与目标组织的炎症反应、细胞增殖和分化。该基因的突变与全身糖皮质激素抵抗有关。该基因的可变剪接导致编码相同或不同异质体的转录本变异体。还描述了由替代帧内翻译起始位点的使用产生的其他异质体,并显示它们是功能的,显示不同的细胞质到核运输模式和独特的转录活性(PMID:15866175)。[RefSeq,2011年2月提供]
Related ID:
NCBI:2908
ENSEMBL:ENSG00000113580
HGNC:7978
UNIPROT:P04150
OMIM:138040
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2908
21
9
157582 bp
85.66
183
2
25
97
NR3C1 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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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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