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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
KCNK13 - Potassium Two Pore Domain Channel Subfamily K Member 13
Alias:
THIK1
THIK-1
K2p13.1
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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。这个基因编码一个包含两个孔形成结构的钾通道。这个蛋白是一个开放的通道,可以被花生四烯酸刺激,并被麻醉剂氟烷抑制。[由RefSeq,2013年7月提供]
Related ID:
NCBI:56659
ENSEMBL:ENSG00000152315
HGNC:6275
UNIPROT:Q9HB14
OMIM:607367
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56659
1
2
123860 bp
45.39
19
--
5
3
KCNK13 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Mutations
No data available
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
Tissue-specific RNA expression
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Cell-specific RNA expression
Organ
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Type
Name
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Mutations
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Status
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Link
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References Literature
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