Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
GEMIN5 - Gem Nuclear Organelle Associated Protein 5
Alias:
NEDCAM
GEMIN-5
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
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WD重复蛋白,是运动神经元存活(SMN)复合物的组成部分。SMN复合物在通过组装剪接体小核核糖核蛋白(snRNPs)的mRNA剪接中扮演关键角色,也可能调节其他类别的核糖核蛋白的组装和运输。编码的蛋白是SMN复合物的snRNA结合成分。这个基因的调控异常可能在替代mRNA剪接和肿瘤细胞迁移中发挥作用。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2011年11月提供]
Related ID:
NCBI:25929
ENSEMBL:ENSG00000082516
HGNC:20043
UNIPROT:Q8TEQ6
OMIM:607005
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25929
2
28
50801 bp
168.59
129
2
3
26
GEMIN5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top