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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
GMIP - GEM Interacting Protein
Alias:
ARHGAP46
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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Rho/Rac/Cdc42样GTP酶激活蛋白ARHGAP家族的成员。编码的蛋白质通过其N-末端结构域与Ras相关蛋白Gem相互作用。此外,它通过RhoGAP结构域与RhoA相互作用,并刺激RhoA依赖的GTP酶活性。可变剪接产生多个转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:51291
ENSEMBL:ENSG00000089639
HGNC:24852
UNIPROT:Q9P107
OMIM:609694
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51291
9
21
14182 bp
106.68
36
--
4
13
GMIP 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
Reset
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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