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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
JPH2 - Junctophilin 2
Alias:
JP2
JP-2
CMD2E
CMH17
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
所有可兴奋细胞类型的共同特征是质膜与内质网/肌质网的连接复合体,它们调节细胞表面与细胞内离子通道之间的跨膜对话。此基因编码的蛋白质是连接复合体的组成部分,由一个横跨内质网/肌质网膜的C端疏水片段和一个剩余的对质膜具有特异性的胞质结构域组成。此基因是junctophilin基因家族的成员。在此位置观察到了可变剪接,并描述了两个编码不同异型体的变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:57158
ENSEMBL:ENSG00000149596
HGNC:14202
UNIPROT:Q9BR39
OMIM:605267
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57158
3
6
80599 bp
74.22
754
4
3
19
JPH2 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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* This data comes from NCBI.
Gene Expression
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References Literature
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