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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
P2RX4 - Purinergic Receptor P2X 4
Alias:
P2X4
P2X4R
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物属于ATP的嘌呤受体家族。这个受体作为具有高钙通透性的配体门控离子通道发挥作用。嘌呤受体家族成员之间的主要药理区别是对拮抗剂苏拉明和PPADS的相对敏感性。这个基因的产物对这些拮抗剂的敏感性最低。已经发现这个基因有多个可变剪接转录变异体,有些是蛋白质编码的,有些不是蛋白质编码的,[RefSeq,2012年2月提供]。
Related ID:
NCBI:5025
ENSEMBL:ENSG00000135124
HGNC:8535
UNIPROT:Q99571
OMIM:600846
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5025
7
12
23978 bp
43.37
24
--
12
11
P2RX4 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)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Related Mouse Models
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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