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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
REPS2 - RALBP1 Associated Eps Domain Containing 2
Alias:
POB1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物是蛋白质复合物的一部分,该复合物调节生长因子受体的内吞作用。编码的蛋白质直接与小G蛋白Ral的下游功能GTP酶激活蛋白相互作用。其表达可以负影响受体内化并抑制生长因子信号传导。已经发现这个基因有多个转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9185
ENSEMBL:ENSG00000169891
HGNC:9963
UNIPROT:Q8NFH8
OMIM:300317
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9185
17
18
249998 bp
71.53
31
--
3
9
REPS2 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
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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No data available
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Name
CAS Number
Status
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Link
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References Literature
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