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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
RGS9 - Regulator Of G Protein Signaling 9
Alias:
PERRS
RGS9L
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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RGS家族成员,该家族成员是GTP酶激活蛋白,通过加速G蛋白的去活化作用,在各种信号传导途径中发挥作用。这种蛋白质锚定在视网膜细胞的光感受器膜上,并去活化在光棒和光锥转换级联中的G蛋白。这个基因的突变导致视力迟钝。已经发现这个基因有不同的转录变异体,编码不同的异构体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:8787
ENSEMBL:ENSG00000108370
HGNC:10004
UNIPROT:O75916
OMIM:604067
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8787
3
19
90334 bp
76.97
464
3
5
6
RGS9 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
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Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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