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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
KCNE2 - Potassium Voltage-gated Channel Subfamily E Regulatory Subunit 2
Alias:
LQT5
LQT6
ATFB4
MIRP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压门控钾(Kv)通道在功能和结构上都是电压门控离子通道中最复杂的类别。它们的功能多样,包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质运输、平滑肌收缩和细胞体积。这个基因编码一个与钾通道、电压门控、isk相关亚家族成员。这个成员是一个小的整合膜亚基,与KCNH2基因产物(一个形成孔的蛋白质)组装在一起,以改变其功能。这个基因在心肌中表达,基因突变与心律失常有关。[RefSeq,2008年7月提供]
Related ID:
NCBI:9992
ENSEMBL:ENSG00000159197
HGNC:6242
UNIPROT:Q9Y6J6
OMIM:603796
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9992
1
2
7376 bp
14.47
135
6
7
10
KCNE2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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