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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
HNF4A - Hepatocyte Nuclear Factor 4 Alpha
Alias:
TCF
HNF4
MODY
FRTS4
MODY1
NR2A1
TCF14
HNF4a7
HNF4a8
HNF4a9
NR2A21
TCF-14
HNF4alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种核转录因子,以同源二聚体形式与DNA结合。编码的蛋白质控制几个基因的表达,包括肝细胞核因子1α,一种调节几个肝脏基因表达的转录因子。这个基因可能在肝脏、肾脏和肠道的发育中发挥作用。这个基因的突变与单基因常染色体显性非胰岛素依赖型糖尿病1型有关。这个基因的可变剪接导致多个转录本变异,编码几个不同的异构体。[由RefSeq,2012年4月提供]
Related ID:
NCBI:3172
ENSEMBL:ENSG00000101076
HGNC:5024
UNIPROT:P41235
OMIM:600281
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3172
14
10
78898 bp
52.78
494
11
18
24
HNF4A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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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Interactions
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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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