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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
AQP3 - Aquaporin 3 (Gill Blood Group)
Alias:
GIL
AQP-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码水通道蛋白水通道蛋白3。水通道蛋白是一类与主要内在蛋白(也称为水通道蛋白0)相关的小整合膜蛋白家族。水通道蛋白3位于肾脏收集管细胞基底侧膜上。除了其水通道功能外,水通道蛋白3还被发现有助于非离子小分子溶质的运输,如尿素和甘油,但程度较小。有研究表明,水通道可以在功能上具有异质性,并具有水和溶质渗透机制。该基因的可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2015年12月提供]
Related ID:
NCBI:360
ENSEMBL:ENSG00000165272
HGNC:636
UNIPROT:Q92482
OMIM:600170
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
360
3
6
6434 bp
31.54
8
--
7
8
AQP3 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
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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