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CSF2 (colony stimulating factor 2)

Identity

Alias_namescolony stimulating factor 2 (granulocyte-macrophage)
Alias_symbol (synonym)GM-CSF
GMCSF
Other aliasCSF
HGNC (Hugo) CSF2
LocusID (NCBI) 1437
Atlas_Id 219
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 132073792 and ends at 132076170 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  Juvenile Chronic Myelogenous Leukemia (JCML)
Myelofibrosis with Myeloid Metaplasia (MMM)::Idiopathic myelofibrosis::Agnogenic myeloid metaplasia
Polycythemia Vera (PV)
t(5;12)(q31;p13) ETV6/ACSL6 in MDS,AML and AEL
t(5;14)(q33;q24) NIN/PDGFRB
t(20;21)(q13.2;q22.12) ZFP64/RUNX1

External links

Nomenclature
HGNC (Hugo)CSF2   2434
Cards
Entrez_Gene (NCBI)CSF2  1437  colony stimulating factor 2
AliasesCSF; GMCSF
GeneCards (Weizmann)CSF2
Ensembl hg19 (Hinxton)ENSG00000164400 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164400 [Gene_View]  chr5:132073792-132076170 [Contig_View]  CSF2 [Vega]
ICGC DataPortalENSG00000164400
TCGA cBioPortalCSF2
AceView (NCBI)CSF2
Genatlas (Paris)CSF2
WikiGenes1437
SOURCE (Princeton)CSF2
Genetics Home Reference (NIH)CSF2
Genomic and cartography
GoldenPath hg38 (UCSC)CSF2  -     chr5:132073792-132076170 +  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSF2  -     5q31.1   [Description]    (hg19-Feb_2009)
EnsemblCSF2 - 5q31.1 [CytoView hg19]  CSF2 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBICSF2 [Mapview hg19]  CSF2 [Mapview hg38]
OMIM138960   
Gene and transcription
Genbank (Entrez)AF510855 AY720441 BC108724 BC113924 BC113999
RefSeq transcript (Entrez)NM_000758
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSF2
Cluster EST : UnigeneHs.1349 [ NCBI ]
CGAP (NCI)Hs.1349
Alternative Splicing GalleryENSG00000164400
Gene ExpressionCSF2 [ NCBI-GEO ]   CSF2 [ EBI - ARRAY_EXPRESS ]   CSF2 [ SEEK ]   CSF2 [ MEM ]
Gene Expression Viewer (FireBrowse)CSF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1437
GTEX Portal (Tissue expression)CSF2
Human Protein AtlasENSG00000164400-CSF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04141   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04141  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04141
Splice isoforms : SwissVarP04141
PhosPhoSitePlusP04141
Domaine pattern : Prosite (Expaxy)GM_CSF (PS00702)   
Domains : Interpro (EBI)4_helix_cytokine-like_core    4_helix_cytokine_core    GM_colony-stim-fac   
Domain families : Pfam (Sanger)GM_CSF (PF01109)   
Domain families : Pfam (NCBI)pfam01109   
Domain families : Smart (EMBL)CSF2 (SM00040)  
Domain structure : Prodom (Prabi Lyon)GM_colony-stim-fac (PD007349)   
Conserved Domain (NCBI)CSF2
DMDM Disease mutations1437
Blocks (Seattle)CSF2
PDB (SRS)1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
PDB (PDBSum)1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
PDB (IMB)1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
PDB (RSDB)1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
Structural Biology KnowledgeBase1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
SCOP (Structural Classification of Proteins)1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
CATH (Classification of proteins structures)1CSG    2GMF    4NKQ    4RS1    5C7X    5D70    5D71    5D72   
SuperfamilyP04141
Human Protein Atlas [tissue]ENSG00000164400-CSF2 [tissue]
Peptide AtlasP04141
HPRD00734
IPIIPI00022270   
Protein Interaction databases
DIP (DOE-UCLA)P04141
IntAct (EBI)P04141
FunCoupENSG00000164400
BioGRIDCSF2
STRING (EMBL)CSF2
ZODIACCSF2
Ontologies - Pathways
QuickGOP04141
Ontology : AmiGOMAPK cascade  histamine secretion  embryonic placenta development  protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  cytokine activity  granulocyte macrophage colony-stimulating factor receptor binding  protein binding  extracellular region  extracellular space  immune response  growth factor activity  positive regulation of cell proliferation  regulation of receptor activity  positive regulation of gene expression  positive regulation of macrophage derived foam cell differentiation  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  neutrophil differentiation  monocyte differentiation  positive regulation of interleukin-23 production  response to silicon dioxide  response to fluid shear stress  epithelial fluid transport  macrophage activation  positive regulation of tyrosine phosphorylation of STAT protein  myeloid dendritic cell differentiation  intracellular membrane-bounded organelle  regulation of circadian sleep/wake cycle, sleep  regulation of myeloid cell differentiation  positive regulation of DNA replication  negative regulation of transcription, DNA-templated  negative regulation of cytolysis  cellular response to lipopolysaccharide  positive regulation of podosome assembly  cellular response to granulocyte macrophage colony-stimulating factor stimulus  dendritic cell differentiation  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIMAPK cascade  histamine secretion  embryonic placenta development  protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  cytokine activity  granulocyte macrophage colony-stimulating factor receptor binding  protein binding  extracellular region  extracellular space  immune response  growth factor activity  positive regulation of cell proliferation  regulation of receptor activity  positive regulation of gene expression  positive regulation of macrophage derived foam cell differentiation  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  neutrophil differentiation  monocyte differentiation  positive regulation of interleukin-23 production  response to silicon dioxide  response to fluid shear stress  epithelial fluid transport  macrophage activation  positive regulation of tyrosine phosphorylation of STAT protein  myeloid dendritic cell differentiation  intracellular membrane-bounded organelle  regulation of circadian sleep/wake cycle, sleep  regulation of myeloid cell differentiation  positive regulation of DNA replication  negative regulation of transcription, DNA-templated  negative regulation of cytolysis  cellular response to lipopolysaccharide  positive regulation of podosome assembly  cellular response to granulocyte macrophage colony-stimulating factor stimulus  dendritic cell differentiation  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : BIOCARTASelective expression of chemokine receptors during T-cell polarization [Genes]    Erythrocyte Differentiation Pathway [Genes]    The Role of Eosinophils in the Chemokine Network of Allergy [Genes]    Cytokines and Inflammatory Response [Genes]    Dendritic cells in regulating TH1 and TH2 Development [Genes]    Regulation of hematopoiesis by cytokines [Genes]   
Pathways : KEGGFc epsilon RI signaling pathway    Hematopoietic cell lineage    T cell receptor signaling pathway    Natural killer cell mediated cytotoxicity    Jak-STAT signaling pathway    Cytokine-cytokine receptor interaction   
NDEx NetworkCSF2
Atlas of Cancer Signalling NetworkCSF2
Wikipedia pathwaysCSF2
Orthology - Evolution
OrthoDB1437
GeneTree (enSembl)ENSG00000164400
Phylogenetic Trees/Animal Genes : TreeFamCSF2
HOVERGENP04141
HOGENOMP04141
Homologs : HomoloGeneCSF2
Homology/Alignments : Family Browser (UCSC)CSF2
Gene fusions - Rearrangements
Fusion : QuiverCSF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSF2
dbVarCSF2
ClinVarCSF2
1000_GenomesCSF2 
Exome Variant ServerCSF2
ExAC (Exome Aggregation Consortium)ENSG00000164400
GNOMAD BrowserENSG00000164400
Genetic variants : HAPMAP1437
Genomic Variants (DGV)CSF2 [DGVbeta]
DECIPHERCSF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSF2 
Mutations
ICGC Data PortalCSF2 
TCGA Data PortalCSF2 
Broad Tumor PortalCSF2
OASIS PortalCSF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CSF2
DgiDB (Drug Gene Interaction Database)CSF2
DoCM (Curated mutations)CSF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSF2 (select a term)
intoGenCSF2
Cancer3DCSF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138960   
Orphanet
DisGeNETCSF2
MedgenCSF2
Genetic Testing Registry CSF2
NextProtP04141 [Medical]
TSGene1437
GENETestsCSF2
Target ValidationCSF2
Huge Navigator CSF2 [HugePedia]
snp3D : Map Gene to Disease1437
BioCentury BCIQCSF2
ClinGenCSF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1437
Chemical/Pharm GKB GenePA26937
Clinical trialCSF2
Miscellaneous
canSAR (ICR)CSF2 (select the gene name)
Probes
Litterature
PubMed288 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSF2
EVEXCSF2
GoPubMedCSF2
iHOPCSF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 28 13:08:00 CET 2018
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