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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
SH3GL3 - SH3 Domain Containing GRB2 Like 3, Endophilin A3
Alias:
CNSA3
EEN-B2
SH3D2C
SH3P13
HsT19371
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有相同的蛋白质结合活性。预测参与突触囊泡去包裹。预测位于顶体囊泡;早期内质网膜;和突触前。预测是早期内质网的一部分。预测在谷氨酸能突触;突触后密度,细胞内成分;和突触后内质网中是活跃的。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:6457
ENSEMBL:ENSG00000140600
HGNC:10832
UNIPROT:Q99963
OMIM:603362
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6457
13
9
186480 bp
39.28
11
--
3
10
SH3GL3 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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