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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
EPAS1 - Endothelial PAS Domain Protein 1
Alias:
HLF
MOP2
ECYT4
HIF2A
PASD2
bHLHe73
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种转录因子,参与氧诱导的基因调控,随着氧分压的降低而诱导。编码的蛋白质包含一个基本的-螺旋-环-螺旋结构域和蛋白质二聚化结构域,以及一个在响应氧分压的信号转导通路中的蛋白质中发现的结构域。这个基因的突变与家族4型红细胞增多症有关。[RefSeq,2009年11月提供]
Related ID:
NCBI:2034
ENSEMBL:ENSG00000116016
HGNC:3374
UNIPROT:Q99814
OMIM:603349
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2034
2
16
89291 bp
96.46
1307
4
19
15
EPAS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
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
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Type
Name
MGI
Strain of Origin
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Mutations
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Status
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Link
No data available
References Literature
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No Data Found!
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