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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
CLCN2 - Chloride Voltage-gated Channel 2
Alias:
CLC2
ECA2
ECA3
EGI3
EGMA
EJM6
EJM8
FHA2
FHII
CIC-2
EGI11
HALD2
LKPAT
clC-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
这个基因编码一个电压门控氯通道。编码的蛋白质是一种跨膜蛋白质,在各种细胞中维持氯离子的内环境稳定。这个基因的缺陷可能是某些癫痫的原因。已经发现这个基因有四个转录变异体,编码不同的异构体。[RefSeq,2012年3月提供]
Related ID:
NCBI:1181
ENSEMBL:ENSG00000114859
HGNC:2020
UNIPROT:P51788
OMIM:600570
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1181
7
24
15421 bp
98.53
362
5
10
18
CLCN2 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
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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