Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1437
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CSF2   Gene   UCSC   Ensembl
Aliases CSF, GMCSF
Gene name colony stimulating factor 2
Alternate names granulocyte-macrophage colony-stimulating factor, colony stimulating factor 2 (granulocyte-macrophage), granulocyte macrophage-colony stimulating factor, molgramostin, sargramostim,
Gene location 5q31.1 (: )     Exons:     
Gene summary(Entrez) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008]
OMIM 138960

Protein Summary
Protein general information P04141  

Name: Granulocyte-macrophage colony-stimulating factor (GM-CSF) (Colony-stimulating factor) (CSF) (Molgramostin) (Sargramostim)

Length: 144  Mass: 16,295

Sequence MWLQSLLLLGTVACSISAPARSPSPSTQPWEHVNAIQEARRLLNLSRDTAAEMNETVEVISEMFDLQEPTCLQTR
LELYKQGLRGSLTKLKGPLTMMASHYKQHCPPTPETSCATQIITFESFKENLKDFLLVIPFDCWEPVQE
Structural information
Interpro:  IPR009079 IPR000773
Prosite:   PS00702

Pfam:  		 PF01109
CDD:   cd00040

PDB:  		 1CSG 2GMF 4NKQ 4RS1 5C7X 5D70 5D71 5D72
PDBsum:   1CSG 2GMF 4NKQ 4RS1 5C7X 5D70 5D71 5D72

DIP:  		 386
STRING:   ENSP00000296871;
Other Databases GeneCards:  CSF2;  Malacards:  CSF2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
 TAS biological_process
GO:0001892 embryonic placenta develo
pment
 IEA biological_process
GO:0004713 protein tyrosine kinase a
ctivity
 TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
 TAS molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005129 granulocyte macrophage co
lony-stimulating factor r
eceptor binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005622 intracellular
 IEA cellular_component
GO:0006955 immune response
 IEA biological_process
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IDA biological_process
GO:0010744 positive regulation of ma
crophage derived foam cel
l differentiation
 IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
 IEA biological_process
GO:0032747 positive regulation of in
terleukin-23 production
 IDA biological_process
GO:0042045 epithelial fluid transpor
t
 IEA biological_process
GO:0042116 macrophage activation
 IEA biological_process
GO:0042523 positive regulation of ty
rosine phosphorylation of
Stat5 protein
 IDA biological_process
GO:0043011 myeloid dendritic cell di
fferentiation
 IDA biological_process
GO:0043547 positive regulation of GT
Pase activity
 IEA biological_process
GO:0045740 positive regulation of DN
A replication
 IDA biological_process
GO:0045918 negative regulation of cy
tolysis
 IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEA biological_process
GO:0071803 positive regulation of po
dosome assembly
 IDA biological_process
GO:0097028 dendritic cell differenti
ation
 IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
 IDA biological_process
GO:0000165 MAPK cascade
 TAS biological_process
GO:0001892 embryonic placenta develo
pment
 IEA biological_process
GO:0004713 protein tyrosine kinase a
ctivity
 TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
 TAS molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005129 granulocyte macrophage co
lony-stimulating factor r
eceptor binding
 IEA molecular_function
GO:0005129 granulocyte macrophage co
lony-stimulating factor r
eceptor binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005622 intracellular
 IEA cellular_component
GO:0006955 immune response
 IEA biological_process
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008083 growth factor activity
 IEA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
 IEA biological_process
GO:0010468 regulation of gene expres
sion
 IEA biological_process
GO:0010628 positive regulation of ge
ne expression
 IDA biological_process
GO:0010744 positive regulation of ma
crophage derived foam cel
l differentiation
 IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
 IEA biological_process
GO:0032747 positive regulation of in
terleukin-23 production
 IDA biological_process
GO:0042045 epithelial fluid transpor
t
 IEA biological_process
GO:0042116 macrophage activation
 IEA biological_process
GO:0042127 regulation of cell prolif
eration
 IEA biological_process
GO:0042523 positive regulation of ty
rosine phosphorylation of
Stat5 protein
 IDA biological_process
GO:0043011 myeloid dendritic cell di
fferentiation
 IEA biological_process
GO:0043011 myeloid dendritic cell di
fferentiation
 IDA biological_process
GO:0043547 positive regulation of GT
Pase activity
 IEA biological_process
GO:0045740 positive regulation of DN
A replication
 IDA biological_process
GO:0045918 negative regulation of cy
tolysis
 IDA biological_process
GO:0071222 cellular response to lipo
polysaccharide
 IEA biological_process
GO:0071803 positive regulation of po
dosome assembly
 IDA biological_process
GO:0097028 dendritic cell differenti
ation
 IEA biological_process
GO:0097028 dendritic cell differenti
ation
 IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
 IDA biological_process
GO:0000165 MAPK cascade
 TAS biological_process
GO:0004713 protein tyrosine kinase a
ctivity
 TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
 TAS molecular_function
GO:0005129 granulocyte macrophage co
lony-stimulating factor r
eceptor binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0010628 positive regulation of ge
ne expression
 IDA biological_process
GO:0010744 positive regulation of ma
crophage derived foam cel
l differentiation
 IDA biological_process
GO:0032747 positive regulation of in
terleukin-23 production
 IDA biological_process
GO:0042523 positive regulation of ty
rosine phosphorylation of
Stat5 protein
 IDA biological_process
GO:0043011 myeloid dendritic cell di
fferentiation
 IDA biological_process
GO:0045740 positive regulation of DN
A replication
 IDA biological_process
GO:0045918 negative regulation of cy
tolysis
 IDA biological_process
GO:0071803 positive regulation of po
dosome assembly
 IDA biological_process
GO:0097028 dendritic cell differenti
ation
 IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
 IDA biological_process

Diseases

Associated diseases References
Alzheimer's disease PMID: 19141999
Rheumatoid Arthritis PMID: 22446963
Asthma PMID: 10400873
Atherosclerosis PMID: 20485444
Bladder cancer PMID: 19692168
Brain Ischemia PMID: 19028820
Chorioamnionitis PMID: 20673868
Chorioamnionitis PMID: 20452482
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Chronic obstructive pulmonary disease (COPD) PMID: 17681858
Kidney Failure PMID: 21085059
Coronary artery disease PMID: 18612209
Dermatitis PMID: 13679820
Diabetes PMID: 19479237
Endometriosis PMID: 28433374
Hypertension PMID: 19578876
Inflammation PMID: 20603037
Leukemia PMID: 19141860
Leukemia, Myelogenous, Chronic, BCR-ABL Positive PMID: 20959405
lung cancer PMID: 20811626
Lung cancer PMID: 18676680
Lung cancer PMID: 19773451
Migraine disorders PMID: 19559392
Pulmonary disease PMID: 18353856
Rhinitis PMID: 19222422
Endometriosis INFBASE28433374
Thyroid cancer PMID: 19730683
Type 2 diabetes PMID: 20536507
Endometriosis PMID: 28433374

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28433374 Endometrio
sis
107 female infe
rtility (56 end
ometriosis pati
ents, 38 patien
ts without endo
metriosis)
 Female infertility
Show abstract