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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
KCNE5 - Potassium Voltage-gated Channel Subfamily E Regulatory Subunit 5
Alias:
KCNE1L
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个单跨膜结构域蛋白家族的成员,这些成员作为电压门控钾通道的辅助亚单位发挥作用。这个家族的成员影响钾通道调节中的多种过程,包括离子选择性、电压依赖性和从质膜向前循环。这个基因的变异与特发性室性纤颤和布格达综合征有关。[RefSeq, Nov 2016提供]
Related ID:
NCBI:23630
ENSEMBL:ENSG00000176076
HGNC:6241
UNIPROT:Q9UJ90
OMIM:300328
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23630
1
1
1473 bp
14.99
68
2
3
8
KCNE5 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
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Cell-specific RNA expression
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Interactions
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Acting
Regulation
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Reference
Score
No data available
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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