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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
KCNK18 - Potassium Two Pore Domain Channel Subfamily K Member 18
Alias:
TRIK
MGR13
TRESK
TRESK2
K2p18.1
TRESK-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钾通道在许多细胞过程中发挥作用,包括动作电位的维持、肌肉收缩、激素分泌、渗透调节和离子流。这个基因编码一个钾通道蛋白超家族的成员,包含两个孔形成P结构域,编码的蛋白质作为外向整流钾通道发挥作用。在这个基因中发现的突变与伴有先兆的偏头痛相关。[由RefSeq,2011年1月提供]
Related ID:
NCBI:338567
ENSEMBL:ENSG00000186795
HGNC:19439
UNIPROT:Q7Z418
OMIM:613655
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
338567
1
3
12811 bp
43.67
46
1
9
6
KCNK18 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)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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IF
No Data Found!
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