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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
RYR2 - Ryanodine Receptor 2
Alias:
RyR
ARVC2
ARVD2
RYR-2
VTSIP
VACRDS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种在心肌肌质网中发现的Ryanodine受体。编码的蛋白质是钙通道的一个组成部分,由Ryanodine受体蛋白质的四聚体和FK506结合蛋白1B蛋白质的四聚体组成,向心肌提供钙。这个基因的突变与应激诱导的多形态室性心动过速和心律失常性右心室发育异常相关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6262
ENSEMBL:ENSG00000198626
HGNC:10484
UNIPROT:Q92736
OMIM:180902
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6262
16
105
791805 bp
564.57
6334
8
40
30
RYR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Type
Name
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References Literature
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