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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
EDN3 - Endothelin 3
Alias:
ET3
ET-3
WS4B
HSCR4
PPET3
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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内皮素家族的成员。内皮素是内皮来源的血管活性肽,参与多种生物功能。这个蛋白质的活性形式是一种由前体蛋白质加工而成的21个氨基酸的肽。活性肽是内皮素B型受体(EDNRB)的配体。这个内皮素与EDNRB的相互作用对神经嵴衍生细胞谱系的发展是必要的,如黑色素细胞和肠神经。这个基因和EDNRB的突变与先天性涉及神经嵴衍生细胞的疾病,如先天性巨结肠病(HSCR)和Waardenburg综合症(WS)有关。这个基因的表达改变与肿瘤发生有关。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2014年10月提供]
Related ID:
NCBI:1908
ENSEMBL:ENSG00000124205
HGNC:3178
UNIPROT:P14138
OMIM:131242
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1908
9
5
25382 bp
25.45
149
5
5
13
EDN3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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