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
MAML2 - Mastermind Like Transcriptional Coactivator 2
Alias:
MAM2
MAM3
MAM-3
MLL-MAML2
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
这个基因编码的蛋白质是Mastermind-like家族蛋白质的一员。所有家庭成员都是富含脯氨酸和谷氨酰胺的,并含有一个保守的碱性结构域,该结构域结合Notch受体(ICN1-4)的细胞内结构域的ankyrin重复域,并在其C-末端有一个转录激活结构域。这个蛋白质结合由CBF1、Hairless抑制子、LAG-1(CSL)与ICN相互作用形成的延伸沟槽,并正调控Notch信号。这个基因在几个源自B细胞的淋巴瘤中的高表达水平已经被观察到。导致与CRTC1和CRTC3融合的重排已被涉及在粘液表皮瘤癌的发展中,而与CXCR4的重排事件与慢性淋巴细胞白血病(CLL)有关。在聚谷氨酰胺沟槽中观察到了拷贝数变异。[由RefSeq,2015年1月提供]
Related ID:
NCBI:84441
ENSEMBL:ENSG00000184384
HGNC:16259
UNIPROT:Q8IZL2
OMIM:607537
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84441
3
5
366598 bp
125.20
46
--
2
10
MAML2 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