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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
SH3D19 - SH3 Domain Containing 19
Alias:
EBP
EVE1
Kryn
Eve-1
SH3P19
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含多个SH3结构域的蛋白质,通过SH3结构域与其他蛋白质如EBP和ADAM家族成员相互作用。这个蛋白质可能参与抑制Ras诱导的细胞转化和Ras通过EBP激活ELK1,以及调控EGFR配体脱落信号传导中的ADAM蛋白质。已发现这个基因的不同剪接转录变异体,它们编码不同的异构体。[RefSeq,2011年8月提供]
Related ID:
NCBI:152503
ENSEMBL:ENSG00000109686
HGNC:30418
UNIPROT:Q5HYK7
OMIM:608674
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
152503
14
20
205325 bp
86.53
52
--
3
9
SH3D19 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
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Residues
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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