CSF2 (colony stimulating factor 2) - Rat Genome Database

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Gene: CSF2 (colony stimulating factor 2) Homo sapiens
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Symbol: CSF2
Name: colony stimulating factor 2
RGD ID: 1354508
HGNC Page HGNC:2434
Description: Enables cytokine activity. Involved in several processes, including cellular response to cytokine stimulus; myeloid leukocyte differentiation; and regulation of gene expression. Located in extracellular space; granulocyte macrophage colony-stimulating factor receptor complex; and intracellular membrane-bounded organelle. Implicated in acute myeloid leukemia; juvenile myelomonocytic leukemia; neutropenia; pulmonary alveolar proteinosis; and visceral leishmaniasis. Biomarker of COVID-19; asthma; chronic obstructive pulmonary disease; and temporal arteritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: colony stimulating factor 2 (granulocyte-macrophage); colony-stimulating factor; CSF; GMCSF; granulocyte macrophage-colony stimulating factor; granulocyte-macrophage colony stimulating factor; granulocyte-macrophage colony-stimulating factor; MGC131935; MGC138897; molgramostim; molgramostin; sargramostim
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385132,073,789 - 132,076,170 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5132,073,789 - 132,076,170 (+)EnsemblGRCh38hg38GRCh38
GRCh375131,409,482 - 131,411,863 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365131,437,384 - 131,439,758 (+)NCBINCBI36Build 36hg18NCBI36
Build 345131,437,383 - 131,439,758NCBI
Celera5127,539,561 - 127,541,935 (+)NCBICelera
Cytogenetic Map5q31.1NCBI
HuRef5126,601,846 - 126,604,224 (+)NCBIHuRef
CHM1_15130,842,312 - 130,844,690 (+)NCBICHM1_1
T2T-CHM13v2.05132,593,659 - 132,596,040 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (ISO)
acute myeloid leukemia  (EXP,IDA)
agranulocytosis  (EXP)
amnestic disorder  (EXP)
anemia  (EXP)
aplastic anemia  (EXP)
asthma  (IEP,ISO)
B-cell lymphoma  (ISO)
Bacteremia  (ISO)
Brain Injuries  (ISO)
Breast Neoplasms  (EXP)
bronchiolitis obliterans  (ISO)
carcinoma  (EXP)
chronic obstructive pulmonary disease  (IEP)
colon adenocarcinoma  (ISO)
Colorectal Neoplasms  (EXP)
congestive heart failure  (EXP)
Cough  (IDA)
COVID-19  (IEP)
disease of cellular proliferation  (ISO)
Drug-Related Side Effects and Adverse Reactions  (EXP)
eyelid disease  (EXP)
familial adenomatous polyposis 1  (IAGP)
Femoral Fractures  (ISO)
Gastrointestinal Hemorrhage  (EXP)
genetic disease  (IAGP)
hepatocellular carcinoma  (ISO)
Hereditary Neoplastic Syndromes  (IAGP)
Human Influenza  (IDA,ISO)
Inflammation  (EXP)
interstitial cystitis  (ISO)
juvenile myelomonocytic leukemia  (EXP,IMP)
limb ischemia  (ISO)
Liver Neoplasms  (EXP)
Lymphoma, AIDS-Related  (EXP)
melanoma  (EXP)
metabolic dysfunction-associated steatotic liver disease  (EXP)
mucositis  (EXP)
multiple myeloma  (EXP)
Muscle Weakness  (EXP)
myocardial infarction  (ISO)
Neoplasm, Residual  (EXP)
neural tube defect  (EXP)
Neurodevelopmental Disorders  (IAGP)
neutropenia  (EXP,IDA)
non-Hodgkin lymphoma  (EXP)
Pain  (EXP)
Parkinsonism  (ISO)
pneumocystosis  (ISO)
pneumonia  (EXP,ISO)
Pseudomonas Infections  (ISO)
psoriasis  (EXP)
pulmonary alveolar proteinosis  (IDA,ISS)
pulmonary fibrosis  (EXP,ISO)
Radiation Injuries  (ISO)
rheumatoid arthritis  (EXP)
sarcoma  (EXP)
schizophrenia  (IAGP)
Sepsis  (IEP)
silicosis  (ISO)
Spinal Cord Injuries  (IDA)
systemic primary carnitine deficiency disease  (IAGP)
temporal arteritis  (IEP)
thrombocytopenia  (EXP)
Thyroid Neoplasms  (EXP)
Venous Thrombosis  (EXP)
Viral Bronchiolitis  (IEP)
visceral leishmaniasis  (EXP,IDA)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-colchicine  (EXP)
(S)-nicotine  (EXP)
1,4-benzoquinone  (ISO)
1,4-phenylenediamine  (ISO)
1-[2-(3,4-dichlorophenyl)ethyl]-4-methylpiperazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-nitropyrene  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,5-dihydroxycinnamic acid methyl ester  (EXP)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-acetyldeoxynivalenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitroquinoline N-oxide  (ISO)
4-nonylphenol  (EXP)
4-phenylbutyric acid  (ISO)
5-fluorouracil  (ISO)
5-oxo-ETE  (EXP)
7,12-dimethyltetraphene  (ISO)
7-ketocholesterol  (EXP)
acetaldehyde  (EXP)
acetylcholine  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP,ISO)
afimoxifene  (ISO)
aflatoxin B1  (EXP)
albuterol  (EXP)
alclometasone dipropionate  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
aluminium hydroxide  (EXP)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
amphotericin B  (EXP)
ampicillin  (ISO)
andrastin A  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
anthracene-1,8,9-triol  (EXP)
apocynin  (EXP)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
asbestos  (EXP)
atorvastatin calcium  (EXP)
ATP  (EXP)
baicalein  (EXP)
beclomethasone  (EXP)
benzalkonium chloride  (ISO)
benzene  (EXP,ISO)
benzene-1,2,4-triol  (ISO)
benzo[a]pyrene  (EXP)
beta-D-glucosamine  (ISO)
betamethasone valerate  (EXP)
bilirubin IXalpha  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP,ISO)
boric acid  (EXP)
Botulinum toxin type A  (ISO)
brefeldin A  (EXP)
bromoacetate  (EXP)
budesonide  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
Calcimycin  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
capsaicin  (ISO)
carbon nanotube  (EXP,ISO)
carmustine  (EXP)
carvedilol  (EXP)
chenodeoxycholic acid  (ISO)
CHIR 99021  (EXP)
choline  (ISO)
ciprofloxacin  (ISO)
cisplatin  (ISO)
clobetasol  (ISO)
cobalt atom  (ISO)
columbamine  (EXP)
cortisol  (EXP,ISO)
crocidolite asbestos  (EXP,ISO)
crotonaldehyde  (EXP)
cyanidin cation  (ISO)
cycloheximide  (EXP)
cyclophosphamide  (EXP,ISO)
cyclosporin A  (ISO)
cypermethrin  (EXP)
cytochalasin B  (EXP)
cytochalasin D  (EXP)
D-penicillamine  (ISO)
deoxycholic acid  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
dichlorine  (ISO)
dihydroxyacetone  (EXP)
dinitrogen  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (ISO)
ethanol  (ISO)
ethyl acetate  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
fenofibrate  (ISO)
ferroheme b  (ISO)
flavonoids  (ISO)
fluticasone  (EXP)
formaldehyde  (EXP,ISO)
formoterol fumarate  (EXP)
fulvestrant  (ISO)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
graphite  (ISO)
GW 4064  (EXP,ISO)
heme b  (ISO)
histamine  (EXP,ISO)
HU-308  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP,ISO)
IC-87114  (ISO)
indometacin  (EXP)
ionomycin  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
iron(2+) sulfate (anhydrous)  (EXP)
isotretinoin  (ISO)
kaempferol  (EXP)
lead diacetate  (ISO)
lead(0)  (ISO)
leukotriene B4  (EXP)
leukotriene D4  (EXP)
linuron  (ISO)
lipoarabinomannan  (EXP)
lipopolysaccharide  (EXP,ISO)
lipoteichoic acid  (EXP)
luteolin  (EXP,ISO)
LY294002  (ISO)
lycopene  (ISO)
malathion  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
mangiferin  (ISO)
mercury dichloride  (ISO)
metam  (ISO)
methamphetamine  (ISO)
methanol  (EXP)
methylmercury chloride  (ISO)
metronidazole  (ISO)
microcystin-LR  (ISO)
ML-7  (EXP)
mometasone furoate  (EXP)
monensin A  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N,N-dimethylacetamide  (EXP,ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
naproxen  (ISO)
neomycin  (ISO)
nickel atom  (ISO)
nickel dichloride  (EXP,ISO)
nicotine  (EXP)
nitrates  (ISO)
nitric oxide  (EXP,ISO)
nitro blue tetrazolium dichloride  (EXP)
nitrogen dioxide  (EXP)
nocodazole  (EXP)
octadecanoic acid  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraoxon  (ISO)
paraquat  (EXP,ISO)
parathion  (ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
peptidoglycan  (EXP)
permethrin  (ISO)
phenethyl isothiocyanate  (EXP,ISO)
Phomenone  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pimecrolimus  (ISO)
piperine  (EXP)
poly(ethylene)  (EXP)
poly(I:C)  (EXP,ISO)
polymyxin B2  (ISO)
pomalidomide  (EXP)
procyanidin B3  (ISO)
propan-2-ol  (ISO)
prostaglandin E2  (EXP,ISO)
Psi-tectorigenin  (EXP)
Pyridostigmine bromide  (ISO)
quartz  (EXP)
quercetin  (EXP,ISO)
raloxifene  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rutin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salmeterol xinafoate  (EXP)
SB 203580  (EXP)
scopolamine  (ISO)
serpentine asbestos  (EXP,ISO)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
sodium dodecyl sulfate  (EXP,ISO)
spironolactone  (EXP)
staurosporine  (EXP)
sulfasalazine  (EXP)
sulforaphane  (EXP)
sumatriptan  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (EXP,ISO)
tamoxifen  (EXP)
taurocholic acid  (ISO)
temozolomide  (EXP)
terameprocol  (ISO)
testosterone  (EXP)
tetracyclines  (ISO)
thalidomide  (EXP)
theophylline  (EXP)
thioacetamide  (ISO)
thymidine  (ISO)
tipifarnib  (EXP)
titanium dioxide  (EXP,ISO)
toluene 2,4-diisocyanate  (EXP)
triamcinolone acetonide  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tubocurarine  (EXP)
tungsten  (ISO)
tyrphostin AG 1478  (EXP)
U-73122  (EXP)
urethane  (EXP,ISO)
usnic acid  (EXP)
vanadyl sulfate  (EXP)
vancomycin  (ISO)
vincristine  (EXP)
vitamin K  (ISO)
wortmannin  (EXP)
zearalenone  (EXP)
zidovudine  (ISO)
zinc atom  (EXP)
zinc dichloride  (EXP,ISO)
zinc oxide  (ISO)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cell population proliferation  (IEA,ISO)
cell surface receptor signaling pathway via JAK-STAT  (IDA)
cellular response to granulocyte macrophage colony-stimulating factor stimulus  (IDA)
cellular response to lipopolysaccharide  (IEA,ISO)
dendritic cell differentiation  (IDA,IEA,ISO)
embryonic placenta development  (IEA,ISO)
epithelial fluid transport  (IEA,ISO)
granulocyte-macrophage colony-stimulating factor signaling pathway  (IDA)
histamine secretion  (IEA,ISO)
immune response  (IEA)
macrophage differentiation  (IDA)
monocyte differentiation  (IEA,ISO)
myeloid cell differentiation  (IBA,IEA)
myeloid dendritic cell differentiation  (IDA,IEA,ISO)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IDA)
neutrophil differentiation  (IEA,ISO)
positive regulation of cell migration  (IEA,ISO)
positive regulation of cell population proliferation  (IDA,IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of gene expression  (IDA)
positive regulation of interleukin-23 production  (IDA)
positive regulation of leukocyte proliferation  (IDA)
positive regulation of macrophage derived foam cell differentiation  (IDA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
positive regulation of podosome assembly  (IDA)
positive regulation of trophectodermal cell proliferation  (ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (IDA)
regulation of cell population proliferation  (IEA,ISO)
regulation of circadian sleep/wake cycle, sleep  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
response to fluid shear stress  (IEA,ISO)
response to silicon dioxide  (IEA,ISO)
signal transduction  (IEA)
TOR signaling  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Early granulocyte-macrophage colony-stimulating factor expression by alveolar inflammatory cells during bleomycin-induced rat lung fibrosis. Andreutti D, etal., Lab Invest. 1998 Dec;78(12):1493-502.
2. Recombinant human granulocyte-macrophage colony-stimulating factor reverses neutropenia and reduces secondary infections in visceral leishmaniasis. Badaro R, etal., J Infect Dis. 1994 Aug;170(2):413-8.
3. Protection against gram-negative bacteremia in neutropenic mice with recombinant granulocyte-macrophage colony-stimulating factor. Bermudez LE, etal., Cytokine. 1990 Jul;2(4):287-93.
4. Azithromycin and clarithromycin inhibit lipopolysaccharide-induced murine pulmonary neutrophilia mainly through effects on macrophage-derived granulocyte-macrophage colony-stimulating factor and interleukin-1beta. Bosnar M, etal., J Pharmacol Exp Ther. 2009 Oct;331(1):104-13. Epub 2009 Jul 24.
5. Simultaneous administration of granulocyte-macrophage colony-stimulating factor and cytosine arabinoside for the treatment of relapsed acute myeloid leukemia. Cannistra SA, etal., Leukemia. 1991 Mar;5(3):230-8.
6. Bone marrow and splenic granulocyte-macrophage colony-stimulating factor and transforming growth factor-beta mRNA levels in irradiated mice. Chang CM, etal., Blood. 1995 Sep 15;86(6):2130-6.
7. The role of TNF-alpha in eosinophilic inflammation associated with RSV bronchiolitis. Choi J, etal., Pediatr Allergy Immunol. 2010 May;21(3):474-9. Epub 2009 Jan 14.
8. Therapeutic efficacy of intranasally delivered mesenchymal stem cells in a rat model of Parkinson disease. Danielyan L, etal., Rejuvenation Res. 2011 Feb;14(1):3-16. Epub 2011 Feb 3.
9. A dual role for the immune response in a mouse model of inflammation-associated lung cancer. Dougan M, etal., J Clin Invest. 2011 Jun 1;121(6):2436-46. doi: 10.1172/JCI44796. Epub 2011 May 2.
10. The ability of recombinant murine granulocyte-macrophage colony-stimulating factor to protect neonatal rats from septic death due to Staphylococcus aureus. Frenck RW, etal., J Infect Dis. 1990 Jul;162(1):109-14.
11. Cross-talk of the related bioactivity mediators in serum after injection of soluble TNF-alpha receptor on silicosis model of rats. Gao HS, etal., Toxicol Ind Health. 2011 Aug;27(7):607-16. doi: 10.1177/0748233710393778. Epub 2011 Apr 19.
12. Chronic cough resembles asthma with IL-5 and granulocyte-macrophage colony-stimulating factor gene expression in bronchoalveolar cells. Gibson PG, etal., J Allergy Clin Immunol. 1998 Mar;101(3):320-6.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Role of granulocyte-macrophage colony-stimulating factor in preventing apoptosis and improving functional outcome in experimental spinal cord contusion injury. Ha Y, etal., J Neurosurg Spine. 2005 Jan;2(1):55-61.
15. Clinical features of patients infected with 2019 novel coronavirus in Wuhan, China. Huang C, etal., Lancet. 2020 Feb 15;395(10223):497-506. doi: 10.1016/S0140-6736(20)30183-5. Epub 2020 Jan 24.
16. GM-CSF in the Lung Protects Against Lethal Influenza Infection. Huang FF, etal., Am J Respir Crit Care Med. 2011 Apr 7.
17. Protective effects of recombinant human granulocyte macrophage colony stimulating factor on H1N1 influenza virus-induced pneumonia in mice. Huang H, etal., Cytokine. 2010 Aug;51(2):151-7. Epub 2010 Apr 27.
18. Inhibition of granulocyte-macrophage colony-stimulating factor prevents dissemination and induces remission of juvenile myelomonocytic leukemia in engrafted immunodeficient mice. Iversen PO, etal., Blood. 1997 Dec 15;90(12):4910-7.
19. Cytokine-mediated deployment of SDF-1 induces revascularization through recruitment of CXCR4+ hemangiocytes. Jin DK, etal., Nat Med. 2006 May;12(5):557-67. Epub 2006 Apr 30.
20. Plasma concentrations of granulocyte-macrophage colony-stimulating factor and interleukin-6 in septic and healthy preterms. Kantar M, etal., Eur J Pediatr. 2000 Mar;159(3):156-7.
21. Genetic kininogen deficiency contributes to aortic aneurysm formation but not to atherosclerosis. Kaschina E, etal., Physiol Genomics 2004 Sep 16;19(1):41-9. Epub 2004 Jul 06.
22. An Open-Label Trial of Rituximab Therapy in Pulmonary Alveolar Proteinosis. Kavuru MS, etal., Eur Respir J. 2011 Apr 8.
23. Antibody to Granulocyte-Macrophage Colony-Stimulating Factor Reduces the Number of Activated Tissue Macrophages and Improves Left Ventricular Function Following Myocardial Infarction in a Rat Coronary-Artery Ligation Model. Kellar RS, etal., J Cardiovasc Pharmacol. 2011 Feb 12.
24. Effects of decreased calmodulin protein on the survival mechanisms of alveolar macrophages during Pneumocystis pneumonia. Lasbury ME, etal., Infect Immun. 2009 Aug;77(8):3344-54. Epub 2009 Jun 1.
25. Antitumoral vaccination with granulocyte-macrophage colony-stimulating factor or interleukin-12-expressing DHD/K12 colon adenocarcinoma cells. Lechanteur C, etal., Cancer Gene Ther. 2000 May;7(5):676-82.
26. Compartmentalized transgene expression of granulocyte-macrophage colony-stimulating factor (GM-CSF) in mouse lung enhances allergic airways inflammation. Lei XF, etal., Clin Exp Immunol. 1998 Aug;113(2):157-65.
27. Chronic aspiration of gastric fluid induces the development of obliterative bronchiolitis in rat lung transplants. Li B, etal., Am J Transplant. 2008 Aug;8(8):1614-21. Epub 2008 Jun 28.
28. In vivo disruption of TGF-beta signaling by Smad7 in airway epithelium alleviates allergic asthma but aggravates lung carcinogenesis in mouse. Luo X, etal., PLoS One. 2010 Apr 13;5(4):e10149.
29. Subcutaneous injection containing IL-3 and GM-CSF ameliorates stab wound-induced brain injury in rats. Nishihara T, etal., Exp Neurol. 2011 Jun;229(2):507-16. Epub 2011 Apr 16.
30. Cytokine gene expression in the marrow stromal cells of patients with giant cell arteritis. Orphanos V, etal., Clin Exp Rheumatol. 1998 Nov-Dec;16(6):683-8.
31. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
32. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
33. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
34. Granulocyte macrophage-colony stimulating factor (GM-CSF) in neonatal neutropenia. Ray M, etal., Indian J Pediatr. 2000 Jan;67(1):67-8.
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. Granulocyte-macrophage colony-stimulating factor expression in induced sputum and bronchial mucosa in asthma and COPD. Saha S, etal., Thorax. 2009 Aug;64(8):671-6. Epub 2009 Feb 12.
37. Correlation of measurable serum markers of inflammation with lung levels following bilateral femur fracture in a rat model. Sears BW, etal., J Inflamm Res. 2010 Aug 1;2010(3):105-114.
38. Therapeutic efficacy of granulocyte-macrophage colony-stimulating factor in patients with idiopathic acquired alveolar proteinosis. Seymour JF, etal., Am J Respir Crit Care Med. 2001 Feb;163(2):524-31.
39. Attenuated hematopoietic response to granulocyte-macrophage colony-stimulating factor in patients with acquired pulmonary alveolar proteinosis. Seymour JF, etal., Blood. 1998 Oct 15;92(8):2657-67.
40. Hemodynamic forces regulate mural macrophage infiltration in experimental aortic aneurysms. Sho E, etal., Exp Mol Pathol. 2004 Apr;76(2):108-16.
41. Multiplex analysis of urinary cytokine levels in rat model of cyclophosphamide-induced cystitis. Smaldone MC, etal., Urology. 2009 Feb;73(2):421-6. Epub 2008 Oct 9.
42. Concurrent delivery of GM-CSF and endostatin genes by a single adenoviral vector provides a synergistic effect on the treatment of orthotopic liver tumors. Tai KF, etal., J Gene Med. 2003 May;5(5):386-98.
43. Idiotype/granulocyte-macrophage colony-stimulating factor fusion protein as a vaccine for B-cell lymphoma. Tao MH and Levy R, Nature. 1993 Apr 22;362(6422):755-8.
Additional References at PubMed
PMID:1569568   PMID:1675789   PMID:1702217   PMID:1737041   PMID:1837174   PMID:1918997   PMID:2645577   PMID:2999978   PMID:3083507   PMID:3486413   PMID:3876930   PMID:3898082  
PMID:3923623   PMID:3925454   PMID:7521193   PMID:7642615   PMID:7695626   PMID:7727786   PMID:7818827   PMID:7957082   PMID:8018916   PMID:8278375   PMID:8516290   PMID:8910448  
PMID:9162089   PMID:9211889   PMID:9722506   PMID:10477722   PMID:10572088   PMID:10666185   PMID:10734053   PMID:11289721   PMID:11522597   PMID:11763346   PMID:11847009   PMID:11855781  
PMID:11880043   PMID:11883735   PMID:11956032   PMID:11963838   PMID:12022701   PMID:12031914   PMID:12050184   PMID:12144536   PMID:12162871   PMID:12171249   PMID:12356579   PMID:12356582  
PMID:12397015   PMID:12421569   PMID:12444058   PMID:12477932   PMID:12488507   PMID:12496443   PMID:12538575   PMID:12548211   PMID:12562384   PMID:12565831   PMID:12568301   PMID:12615367  
PMID:12629028   PMID:12637324   PMID:12646185   PMID:12663443   PMID:12695562   PMID:12743567   PMID:12744771   PMID:12759409   PMID:12855588   PMID:12926133   PMID:12928384   PMID:12935848  
PMID:12954601   PMID:13679820   PMID:14503968   PMID:14512323   PMID:14530365   PMID:14564341   PMID:14567558   PMID:14628073   PMID:14630612   PMID:14662891   PMID:14726527   PMID:14730225  
PMID:15009203   PMID:15078892   PMID:15123671   PMID:15129224   PMID:15136573   PMID:15201279   PMID:15218949   PMID:15220135   PMID:15245433   PMID:15269821   PMID:15308671   PMID:15340054  
PMID:15358207   PMID:15372022   PMID:15388258   PMID:15388264   PMID:15475489   PMID:15479432   PMID:15481145   PMID:15489334   PMID:15528381   PMID:15541716   PMID:15576295   PMID:15621725  
PMID:15927668   PMID:16027123   PMID:16116184   PMID:16167889   PMID:16211258   PMID:16305336   PMID:16380083   PMID:16487109   PMID:16491014   PMID:16606666   PMID:16716376   PMID:16783532  
PMID:16896315   PMID:16912178   PMID:16949316   PMID:17142110   PMID:17205286   PMID:17273755   PMID:17311927   PMID:17342342   PMID:17355643   PMID:17362254   PMID:17512774   PMID:17533050  
PMID:17619839   PMID:17681858   PMID:17703412   PMID:17713553   PMID:17894541   PMID:17914409   PMID:17934321   PMID:17938902   PMID:18027871   PMID:18089573   PMID:18219369   PMID:18254319  
PMID:18353856   PMID:18434187   PMID:18439101   PMID:18441098   PMID:18523302   PMID:18676680   PMID:18692472   PMID:18701168   PMID:18755511   PMID:18804273   PMID:18830265   PMID:18926300  
PMID:18928604   PMID:18945465   PMID:18971287   PMID:18974369   PMID:18974840   PMID:19028820   PMID:19032770   PMID:19050289   PMID:19131452   PMID:19131662   PMID:19141860   PMID:19158269  
PMID:19164476   PMID:19170196   PMID:19222422   PMID:19225544   PMID:19230854   PMID:19247692   PMID:19258923   PMID:19263529   PMID:19282464   PMID:19324950   PMID:19379606   PMID:19453261  
PMID:19479237   PMID:19494510   PMID:19559392   PMID:19560459   PMID:19578876   PMID:19625176   PMID:19692168   PMID:19699526   PMID:19730683   PMID:19773451   PMID:19807655   PMID:19913121  
PMID:20015396   PMID:20027291   PMID:20056792   PMID:20078425   PMID:20233331   PMID:20382843   PMID:20452482   PMID:20483917   PMID:20485444   PMID:20503287   PMID:20527084   PMID:20536507  
PMID:20603037   PMID:20628086   PMID:20673868   PMID:20802406   PMID:20811626   PMID:20829438   PMID:20956574   PMID:20959405   PMID:21052690   PMID:21071541   PMID:21123547   PMID:21149635  
PMID:21262803   PMID:21324206   PMID:21486701   PMID:21506110   PMID:21705618   PMID:21724805   PMID:21873076   PMID:21873635   PMID:21931646   PMID:22031867   PMID:22200506   PMID:22430742  
PMID:22446963   PMID:22655069   PMID:22698406   PMID:22698407   PMID:22837488   PMID:22911897   PMID:23069312   PMID:23128233   PMID:23333304   PMID:23383108   PMID:23520016   PMID:23548906  
PMID:23585475   PMID:23600834   PMID:23696637   PMID:23898208   PMID:23920355   PMID:24040001   PMID:24056818   PMID:24078930   PMID:24100343   PMID:24117406   PMID:24162774   PMID:24211252  
PMID:24244449   PMID:24258001   PMID:24275678   PMID:24390342   PMID:24446489   PMID:24463275   PMID:24670131   PMID:24692225   PMID:24692240   PMID:24823638   PMID:24836891   PMID:24899193  
PMID:24942581   PMID:25080789   PMID:25278028   PMID:25341640   PMID:25416956   PMID:25629767   PMID:25633855   PMID:25721620   PMID:25814824   PMID:25910212   PMID:25919140   PMID:26033355  
PMID:26339358   PMID:26381575   PMID:26521038   PMID:27016418   PMID:27173404   PMID:27211553   PMID:27364892   PMID:27396825   PMID:27819269   PMID:28043030   PMID:28274999   PMID:28376863  
PMID:28377320   PMID:28536308   PMID:28737771   PMID:28754674   PMID:28846166   PMID:29142230   PMID:29233902   PMID:29434451   PMID:30007865   PMID:30110645   PMID:30205963   PMID:30769926  
PMID:30804212   PMID:30935694   PMID:31133636   PMID:31175163   PMID:31396950   PMID:31552022   PMID:31581558   PMID:31786501   PMID:32097462   PMID:32246765   PMID:32347412   PMID:32365364  
PMID:32390004   PMID:32591464   PMID:32668704   PMID:32711425   PMID:32765525   PMID:32793233   PMID:32814053   PMID:32970801   PMID:33679701   PMID:33692097   PMID:33742625   PMID:33766427  
PMID:33875006   PMID:33893236   PMID:33961781   PMID:34082682   PMID:34119277   PMID:34247146   PMID:34371207   PMID:34828331   PMID:35414668   PMID:35583004   PMID:36233301   PMID:36519914  
PMID:36632762   PMID:36633260   PMID:37081870   PMID:37536182   PMID:37564209   PMID:37700482   PMID:37759746   PMID:37867465   PMID:38142781  


Genomics

Comparative Map Data
CSF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385132,073,789 - 132,076,170 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5132,073,789 - 132,076,170 (+)EnsemblGRCh38hg38GRCh38
GRCh375131,409,482 - 131,411,863 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365131,437,384 - 131,439,758 (+)NCBINCBI36Build 36hg18NCBI36
Build 345131,437,383 - 131,439,758NCBI
Celera5127,539,561 - 127,541,935 (+)NCBICelera
Cytogenetic Map5q31.1NCBI
HuRef5126,601,846 - 126,604,224 (+)NCBIHuRef
CHM1_15130,842,312 - 130,844,690 (+)NCBICHM1_1
T2T-CHM13v2.05132,593,659 - 132,596,040 (+)NCBIT2T-CHM13v2.0
Csf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391154,138,096 - 54,140,725 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1154,138,097 - 54,140,493 (-)EnsemblGRCm39 Ensembl
GRCm381154,247,270 - 54,249,899 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1154,247,271 - 54,249,667 (-)EnsemblGRCm38mm10GRCm38
MGSCv371154,060,772 - 54,063,401 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361154,090,687 - 54,093,065 (-)NCBIMGSCv36mm8
Celera1158,835,805 - 58,838,455 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1132.13NCBI
Csf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81038,887,692 - 38,889,673 (-)NCBIGRCr8
mRatBN7.21038,386,945 - 38,388,926 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1038,386,945 - 38,389,199 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1043,071,621 - 43,073,600 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01042,561,720 - 42,563,699 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01038,065,426 - 38,067,405 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01039,602,089 - 39,604,070 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1039,602,089 - 39,604,070 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01039,379,120 - 39,381,430 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41039,665,850 - 39,667,831 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11039,679,472 - 39,681,403 (-)NCBI
Celera1037,727,629 - 37,729,611 (-)NCBICelera
Cytogenetic Map10q22NCBI
Csf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554083,451,965 - 3,454,312 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554083,452,009 - 3,454,255 (+)NCBIChiLan1.0ChiLan1.0
CSF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24127,392,221 - 127,394,601 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15125,531,784 - 125,534,164 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05127,496,951 - 127,499,325 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15133,660,775 - 133,663,146 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5133,660,775 - 133,663,146 (+)Ensemblpanpan1.1panPan2
CSF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11120,342,880 - 20,346,959 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1120,344,648 - 20,346,959 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1119,140,218 - 19,142,512 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01121,128,373 - 21,132,476 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1121,129,967 - 21,132,524 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11119,849,460 - 19,851,754 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01119,697,439 - 19,699,733 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01120,339,024 - 20,341,318 (+)NCBIUU_Cfam_GSD_1.0
Csf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213116,079,008 - 116,081,102 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366473,081,896 - 3,083,864 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366473,081,896 - 3,083,864 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2134,354,724 - 134,357,155 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12134,354,724 - 134,357,155 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22139,706,386 - 139,708,817 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CSF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12334,906,987 - 34,911,252 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2334,908,911 - 34,911,140 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603443,046,561 - 43,048,998 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473340,039,414 - 40,041,294 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473340,039,127 - 40,041,294 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CSF2
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 copy number loss See cases [RCV000052109] Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1
pathogenic
GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 copy number loss See cases [RCV000135442] Chr5:131626503..135815054 [GRCh38]
Chr5:130962196..135150743 [GRCh37]
Chr5:130990095..135178642 [NCBI36]
Chr5:5q31.1
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.10:g.(?_131428263)_(132208822_?)del deletion Schizophrenia [RCV000754294] Chr5:131428263..132208822 [GRCh38]
Chr5:5q31.1
likely pathogenic
NM_000758.4(CSF2):c.66G>A (p.Ser22=) single nucleotide variant not provided [RCV000961650] Chr5:132073889 [GRCh38]
Chr5:131409582 [GRCh37]
Chr5:5q31.1
benign
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 copy number loss not provided [RCV000762739] Chr5:126377719..136270989 [GRCh37]
Chr5:5q23.2-31.2
likely pathogenic
NC_000005.9:g.(?_130497712)_(131729974_?)del deletion Renal carnitine transport defect [RCV001031175] Chr5:130497712..131729974 [GRCh37]
Chr5:5q23.3-31.1
pathogenic
NM_000758.4(CSF2):c.327G>A (p.Pro109=) single nucleotide variant not provided [RCV000969204] Chr5:132074935 [GRCh38]
Chr5:131410628 [GRCh37]
Chr5:5q31.1
likely benign
NM_000758.4(CSF2):c.344C>T (p.Thr115Ile) single nucleotide variant not provided [RCV000881878] Chr5:132075761 [GRCh38]
Chr5:131411454 [GRCh37]
Chr5:5q31.1
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q31.1(chr5:131107107-131528744)x3 copy number gain not provided [RCV000846701] Chr5:131107107..131528744 [GRCh37]
Chr5:5q31.1
uncertain significance
NM_000758.4(CSF2):c.81G>A (p.Thr27=) single nucleotide variant not provided [RCV000892863] Chr5:132073904 [GRCh38]
Chr5:131409597 [GRCh37]
Chr5:5q31.1
benign
NM_000758.4(CSF2):c.276C>T (p.Gly92=) single nucleotide variant not provided [RCV000975079] Chr5:132074884 [GRCh38]
Chr5:131410577 [GRCh37]
Chr5:5q31.1
benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686) copy number loss Neurodevelopmental disorder and language delay with or without structural brain abnormalities [RCV003236718] Chr5:127800418..134002686 [GRCh37]
Chr5:5q23.3-31.1
pathogenic
NM_000758.4(CSF2):c.65C>T (p.Ser22Leu) single nucleotide variant Inborn genetic diseases [RCV002688570] Chr5:132073888 [GRCh38]
Chr5:131409581 [GRCh37]
Chr5:5q31.1
likely benign
NM_000758.4(CSF2):c.58G>A (p.Ala20Thr) single nucleotide variant Inborn genetic diseases [RCV002737085] Chr5:132073881 [GRCh38]
Chr5:131409574 [GRCh37]
Chr5:5q31.1
likely benign
NM_000758.4(CSF2):c.156G>C (p.Glu52Asp) single nucleotide variant Inborn genetic diseases [RCV002704868] Chr5:132073979 [GRCh38]
Chr5:131409672 [GRCh37]
Chr5:5q31.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:173
Count of miRNA genes:158
Interacting mature miRNAs:169
Transcripts:ENST00000296871
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D5S2591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,580 - 131,411,722UniSTSGRCh37
Build 365131,439,479 - 131,439,621RGDNCBI36
Celera5127,541,656 - 127,541,798RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,941 - 126,604,083UniSTS
G15899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,607 - 131,411,830UniSTSGRCh37
Build 365131,439,506 - 131,439,729RGDNCBI36
Celera5127,541,683 - 127,541,906RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,968 - 126,604,191UniSTS
PMC102624P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,890 - 131,409,387UniSTSGRCh37
Build 365131,436,789 - 131,437,286RGDNCBI36
Celera5127,538,966 - 127,539,463RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,251 - 126,601,748UniSTS
ECD00779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,042 - 131,409,932UniSTSGRCh37
Build 365131,436,941 - 131,437,831RGDNCBI36
Celera5127,539,118 - 127,540,008RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,403 - 126,602,293UniSTS
ECD01256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,947 - 131,410,818UniSTSGRCh37
Build 365131,437,846 - 131,438,717RGDNCBI36
Celera5127,540,023 - 127,540,894RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,602,308 - 126,603,179UniSTS
ECD01399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,410,847 - 131,411,713UniSTSGRCh37
Build 365131,438,746 - 131,439,612RGDNCBI36
Celera5127,540,923 - 127,541,789RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,208 - 126,604,074UniSTS
ECD01587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,143 - 131,409,003UniSTSGRCh37
Build 365131,436,042 - 131,436,902RGDNCBI36
Celera5127,538,219 - 127,539,079RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,600,504 - 126,601,364UniSTS
STS-M13207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,533 - 131,411,719UniSTSGRCh37
Build 365131,439,432 - 131,439,618RGDNCBI36
Celera5127,541,609 - 127,541,795RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,894 - 126,604,080UniSTS
GeneMap99-GB4 RH Map5504.35UniSTS
REN68751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,407,497 - 131,407,724UniSTSGRCh37
Build 365131,435,396 - 131,435,623RGDNCBI36
Celera5127,537,573 - 127,537,800RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,599,858 - 126,600,085UniSTS
REN68752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,407,701 - 131,407,962UniSTSGRCh37
Build 365131,435,600 - 131,435,861RGDNCBI36
Celera5127,537,777 - 127,538,038RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,600,062 - 126,600,323UniSTS
REN68753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,407,933 - 131,408,175UniSTSGRCh37
Build 365131,435,832 - 131,436,074RGDNCBI36
Celera5127,538,009 - 127,538,251RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,600,294 - 126,600,536UniSTS
REN68754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,161 - 131,408,415UniSTSGRCh37
Build 365131,436,060 - 131,436,314RGDNCBI36
Celera5127,538,237 - 127,538,491RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,600,522 - 126,600,776UniSTS
REN68755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,392 - 131,408,646UniSTSGRCh37
Build 365131,436,291 - 131,436,545RGDNCBI36
Celera5127,538,468 - 127,538,722RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,600,753 - 126,601,007UniSTS
REN68756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,639 - 131,408,880UniSTSGRCh37
Build 365131,436,538 - 131,436,779RGDNCBI36
Celera5127,538,715 - 127,538,956RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,000 - 126,601,241UniSTS
REN68757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,849 - 131,409,077UniSTSGRCh37
Build 365131,436,748 - 131,436,976RGDNCBI36
Celera5127,538,925 - 127,539,153RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,210 - 126,601,438UniSTS
REN68758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,067 - 131,409,313UniSTSGRCh37
Build 365131,436,966 - 131,437,212RGDNCBI36
Celera5127,539,143 - 127,539,389RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,428 - 126,601,674UniSTS
REN68759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,287 - 131,409,524UniSTSGRCh37
Build 365131,437,186 - 131,437,423RGDNCBI36
Celera5127,539,363 - 127,539,600RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,648 - 126,601,885UniSTS
REN68760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,499 - 131,409,765UniSTSGRCh37
Build 365131,437,398 - 131,437,664RGDNCBI36
Celera5127,539,575 - 127,539,841RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,601,860 - 126,602,126UniSTS
REN68761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,739 - 131,410,006UniSTSGRCh37
Build 365131,437,638 - 131,437,905RGDNCBI36
Celera5127,539,815 - 127,540,082RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,602,100 - 126,602,367UniSTS
REN68762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,991 - 131,410,259UniSTSGRCh37
Build 365131,437,890 - 131,438,158RGDNCBI36
Celera5127,540,067 - 127,540,335RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,602,352 - 126,602,620UniSTS
REN68763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,410,252 - 131,410,503UniSTSGRCh37
Build 365131,438,151 - 131,438,402RGDNCBI36
Celera5127,540,328 - 127,540,579RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,602,613 - 126,602,864UniSTS
REN68764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,410,476 - 131,410,713UniSTSGRCh37
Build 365131,438,375 - 131,438,612RGDNCBI36
Celera5127,540,552 - 127,540,789RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,602,837 - 126,603,074UniSTS
REN68765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,410,693 - 131,410,924UniSTSGRCh37
Build 365131,438,592 - 131,438,823RGDNCBI36
Celera5127,540,769 - 127,541,000RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,054 - 126,603,285UniSTS
REN68766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,410,900 - 131,411,143UniSTSGRCh37
Build 365131,438,799 - 131,439,042RGDNCBI36
Celera5127,540,976 - 127,541,219RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,261 - 126,603,504UniSTS
REN68767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,117 - 131,411,376UniSTSGRCh37
Build 365131,439,016 - 131,439,275RGDNCBI36
Celera5127,541,193 - 127,541,452RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,478 - 126,603,737UniSTS
REN68768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,353 - 131,411,619UniSTSGRCh37
Build 365131,439,252 - 131,439,518RGDNCBI36
Celera5127,541,429 - 127,541,695RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,714 - 126,603,980UniSTS
REN68769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,617 - 131,411,878UniSTSGRCh37
Build 365131,439,516 - 131,439,777RGDNCBI36
Celera5127,541,693 - 127,541,954RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,978 - 126,604,239UniSTS
REN68770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,803 - 131,412,028UniSTSGRCh37
Build 365131,439,702 - 131,439,927RGDNCBI36
Celera5127,541,879 - 127,542,104RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,604,164 - 126,604,389UniSTS
REN68771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,412,008 - 131,412,256UniSTSGRCh37
Build 365131,439,907 - 131,440,155RGDNCBI36
Celera5127,542,084 - 127,542,332RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,604,369 - 126,604,617UniSTS
stSG601036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,619 - 131,409,752UniSTSGRCh37
Build 365131,436,518 - 131,437,651RGDNCBI36
Celera5127,538,695 - 127,539,828RGD
HuRef5126,600,980 - 126,602,113UniSTS
stSG601037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,409,731 - 131,410,748UniSTSGRCh37
Build 365131,437,630 - 131,438,647RGDNCBI36
Celera5127,539,807 - 127,540,824RGD
HuRef5126,602,092 - 126,603,109UniSTS
stSG601038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,410,847 - 131,412,112UniSTSGRCh37
Build 365131,438,746 - 131,440,011RGDNCBI36
Celera5127,540,923 - 127,542,188RGD
HuRef5126,603,208 - 126,604,473UniSTS
D5S2781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,408,633 - 131,408,821UniSTSGRCh37
Build 365131,436,532 - 131,436,720RGDNCBI36
Celera5127,538,709 - 127,538,897RGD
HuRef5126,600,994 - 126,601,182UniSTS
STS-M11220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375131,411,438 - 131,411,628UniSTSGRCh37
Build 365131,439,337 - 131,439,527RGDNCBI36
Celera5127,541,514 - 127,541,704RGD
Cytogenetic Map5q31.1UniSTS
HuRef5126,603,799 - 126,603,989UniSTS
GeneMap99-GB4 RH Map5499.85UniSTS
GDB:374166  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.1UniSTS
GDB:624806  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.1UniSTS
GDB:624816  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 19 1 11 3 5 3 7 1 7 11 15 55 4 2
Low 138 112 72 42 274 36 66 13 27 45 88 537 11 28 25 1
Below cutoff 569 637 443 250 610 199 802 267 307 143 473 383 53 353 408 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF373868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF510855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY720441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS401638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC025839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP271009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000296871   ⟹   ENSP00000296871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5132,073,789 - 132,076,170 (+)Ensembl
RefSeq Acc Id: NM_000758   ⟹   NP_000749
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385132,073,789 - 132,076,170 (+)NCBI
GRCh375131,409,485 - 131,411,863 (+)NCBI
Build 365131,437,384 - 131,439,758 (+)NCBI Archive
HuRef5126,601,846 - 126,604,224 (+)NCBI
CHM1_15130,842,312 - 130,844,690 (+)NCBI
T2T-CHM13v2.05132,593,659 - 132,596,040 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000749   ⟸   NM_000758
- Peptide Label: precursor
- UniProtKB: Q2VPI8 (UniProtKB/Swiss-Prot),   Q14CE8 (UniProtKB/Swiss-Prot),   Q8NFI6 (UniProtKB/Swiss-Prot),   P04141 (UniProtKB/Swiss-Prot),   Q647J8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000296871   ⟸   ENST00000296871

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04141-F1-model_v2 AlphaFold P04141 1-144 view protein structure

Promoters
RGD ID:6802976
Promoter ID:HG_KWN:51017
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000132636
Position:
Human AssemblyChrPosition (strand)Source
Build 365131,437,396 - 131,437,896 (+)MPROMDB
RGD ID:6870496
Promoter ID:EPDNEW_H8413
Type:multiple initiation site
Name:CSF2_1
Description:colony stimulating factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385132,073,792 - 132,073,852EPDNEW
RGD ID:6850150
Promoter ID:EP11137
Type:single initiation site
Name:HS_CSF2
Description:Granulocyte/Macrophage colony stimulating factor, CSF2or GMCSF gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 49; Mammalian GM-CSF
Experiment Methods:Nuclease protection with homologous sequence ladder; Sequencing of a full-length cDNA; experiments performed with; closely related gene; Primer extension; experiments performed with closely related; gene
Regulation:T (repressed by or weakly expressed in) lymphocytes; (induced by or strongly expressed in) antigen
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2434 AgrOrtholog
COSMIC CSF2 COSMIC
Ensembl Genes ENSG00000164400 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296871 ENTREZGENE
  ENST00000296871.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164400 GTEx
HGNC ID HGNC:2434 ENTREZGENE
Human Proteome Map CSF2 Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GM_colony-stim-fac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1437 UniProtKB/Swiss-Prot
NCBI Gene 1437 ENTREZGENE
OMIM 138960 OMIM
PANTHER GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR GM-CSF UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam GM_CSF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26937 PharmGKB
PRINTS GMCSFACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GM_CSF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CSF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP 4-helical cytokines UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt CSF2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14CE8 ENTREZGENE
  Q2VPI8 ENTREZGENE
  Q647J8 ENTREZGENE, UniProtKB/TrEMBL
  Q8NFI6 ENTREZGENE
UniProt Secondary Q14CE8 UniProtKB/Swiss-Prot
  Q2VPI8 UniProtKB/Swiss-Prot
  Q8NFI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CSF2  colony stimulating factor 2  CSF2  colony stimulating factor 2 (granulocyte-macrophage)  Symbol and/or name change 5135510 APPROVED