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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
小鼠
Kcnh2 - potassium voltage-gated channel, subfamily H (eag-related), member 2
Alias:
LQT
ERG1
Lqt2
M-erg
Merg1
merg1a
merg1b
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活内向钾离子通道活性。在钾离子跨膜运输的上游或内部发挥作用;调节心率;以及调节心室心肌细胞膜的重极化。位于细胞质、核膜和质膜中。在几个结构中表达,包括大脑、早期孕囊、性腺、心和视网膜。用于研究短QT综合症。这个基因的人类同源物与长QT综合症、长QT综合症2和短QT综合症有关。与人类的KCNH2(钾电压门控通道H亚家族成员2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:16511
ENSEMBL:ENSMUSG00000038319
UNIPROT:O35219
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
16511
6
15
32089 bp
126.89
5
5
Kcnh2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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