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
CSF1R - Colony Stimulating Factor 1 Receptor
Alias:
FMS
CSFR
FIM2
GPSC
HDLS
C-FMS
CD115
HDLS1
CSF-1R
BANDDOS
M-CSF-R
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群落刺激因子1的受体,群落刺激因子1是一种控制巨噬细胞产生、分化和功能的细胞因子。这个受体介导了大部分(如果不是全部的话)这个细胞因子的生物效应。配体结合通过寡聚化和转磷酸化过程激活受体激酶。编码的蛋白质是一种酪氨酸激酶跨膜受体,属于CSF1/PDGF受体家族中的酪氨酸-蛋白质激酶成员。这个基因的突变与髓系恶性的易感性有关。这个基因的第一个内含子包含一个转录失活的核糖体蛋白L7加工后的假基因,方向相反。可选的剪接导致多个转录变异体。在霍奇金淋巴瘤(HL)、HL细胞系和间变大细胞淋巴瘤中发现了来自LTR启动子的剪接变异体的表达。[RefSeq,2017年3月提供]
Related ID:
NCBI:1436
ENSEMBL:ENSG00000182578
HGNC:2433
UNIPROT:P07333
OMIM:164770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1436
5
21
60071 bp
107.98
680
2
17
45
CSF1R 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