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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
大鼠
Jph2 - junctophilin 2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够激活DNA结合的转录抑制活性,特异性结合RNA聚合酶II;核心启动子序列特异性的DNA结合活性;以及磷脂结合活性。预测参与RNA聚合酶II负向调控转录,正调控Ryanodine敏感钙释放通道活性;以及调控心肌组织发育。预测位于Z带;膜;和细胞核内。预测是连接膜复合物的一部分。预测在内质网膜;质膜;和肌质网中活性。肥厚型心肌病的生物标志物。该基因的人类同源物与扩张型心肌病和肥厚型心肌病17有关。与人类JPH2(junctophilin 2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:296345
ENSEMBL:ENSRNOG00000008170
UNIPROT:Q2PS20
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
296345
2
5
64174 bp
74.26
3
1
Jph2 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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#
Transcript
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* This data comes from NCBI.
Gene Expression
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