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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
SV2B - Synaptic Vesicle Glycoprotein 2B
Alias:
SLC22B2
HsT19680
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码突触囊泡蛋白2(SV2)家族的一员,以及蛋白质的主要促进者超家族。这个蛋白质和其他家族的成员定位在突触囊泡上,可能参与囊泡运输和分泌的调节。在小鼠中的研究表明,这个编码的蛋白质可能作为神经毒素E的蛋白质受体在神经元中发挥作用,并且这个蛋白质可能对肾小球滤过屏障的完整性很重要。这个基因在人类颞叶癫痫患者海马体中突触丢失的区域表达减少。[RefSeq,2016年9月提供]
Related ID:
NCBI:9899
ENSEMBL:ENSG00000185518
HGNC:16874
UNIPROT:Q7L1I2
OMIM:185861
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9899
15
13
202978 bp
77.44
28
--
4
5
SV2B 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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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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