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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
EDA2R - Ectodysplasin A2 Receptor
Alias:
XEDAR
EDAA2R
EDA-A2R
TNFRSF27
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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TNFR(肿瘤坏死因子受体)超家族的III型跨膜蛋白,包含丰富的半胱氨酸重复序列和一个单跨膜结构域。这个蛋白质与在外胚层发育不良素EDA-A2异构体上结合,在外毛和牙齿的维持中起重要作用。可变剪接转录本变异体编码不同的蛋白质异构体。[由RefSeq,2016年4月提供]
Related ID:
NCBI:60401
ENSEMBL:ENSG00000131080
HGNC:17756
UNIPROT:Q9HAV5
OMIM:300276
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
60401
51
7
43633 bp
32.76
23
1
4
5
EDA2R 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)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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No data available
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Status
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No data available
References Literature
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No Data Found!
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