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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
Gjb2 - gap junction protein, beta 2
Alias:
Cx26
Cxne
CXN-26
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活间隙连接通道活性。参与几个过程,包括细胞对葡萄糖刺激的响应;生殖结构发育;以及类固醇激素的响应。位于几个细胞成分中,包括星形胶质细胞突起;间隙连接;和侧血浆膜。用于研究肝细胞癌和肺腺癌。自身免疫性甲状腺炎、肝外胆汁淤积、缺血、感觉神经性听力丧失和尿道梗阻的生物标志物。这个基因的人类同源物涉及巴特-庞弗雷综合征、沃欣克尔综合征、常染色体显性角膜炎-鱼鳞病-失聪综合征、非综合征性失聪(多种)和掌跖角化病-失聪综合征。与人GJB2(间隙连接蛋白β2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:394266
ENSEMBL:ENSRNOG00000008855
UNIPROT:P21994
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
394266
3
2
17833 bp
26.45
15
4
Gjb2 Genetics information (-)
mRatBN7.2
Sequence Homology
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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Name
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