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
KAT6B - Lysine Acetyltransferase 6B
Alias:
qkf
MORF
MOZ2
GTPTS
MYST4
ZC2HC6B
querkopf
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一种组蛋白乙酰转移酶,是MOZ/MORF蛋白质复合物的组成部分。除了其乙酰转移酶活性外,编码的蛋白质在其N端具有转录激活活性,而在其C端具有转录抑制活性。该蛋白质对RUNX2依赖的转录激活是必需的,可能涉及大脑发育。在患有生殖膝综合症的患者中已经发现了该基因的突变。该基因和CREBBP基因的重排导致急性粒细胞白血病。已经发现这个基因有三个编码不同异型的转录变异体。[由RefSeq,2012年3月提供]
Related ID:
NCBI:23522
ENSEMBL:ENSG00000156650
HGNC:17582
UNIPROT:Q8WYB5
OMIM:605880
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23522
35
18
207689 bp
231.38
976
10
4
16
KAT6B 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