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Aliases for CSF3R Gene

Aliases for CSF3R Gene

  • Colony Stimulating Factor 3 Receptor (Granulocyte) 2 3
  • GCSFR 3 4 6
  • G-CSF Receptor 3 4
  • CD114 Antigen 3 4
  • G-CSF-R 3 4
  • Granulocyte Colony-Stimulating Factor Receptor 3
  • CD114 3

External Ids for CSF3R Gene

Previous Symbols for CSF3R Gene

  • CD114

Summaries for CSF3R Gene

Entrez Gene Summary for CSF3R Gene

  • The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]

GeneCards Summary for CSF3R Gene

CSF3R (Colony Stimulating Factor 3 Receptor (Granulocyte)) is a Protein Coding gene. Diseases associated with CSF3R include chronic neutrophilic leukemia and neutrophilia, hereditary. Among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. GO annotations related to this gene include receptor activity and cytokine receptor activity. An important paralog of this gene is IL12RB2.

UniProtKB/Swiss-Prot for CSF3R Gene

  • Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.

Gene Wiki entry for CSF3R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSF3R Gene

Genomics for CSF3R Gene

Genomic Location for CSF3R Gene

Start:
36,466,043 bp from pter
End:
36,483,314 bp from pter
Size:
17,272 bases
Orientation:
Minus strand

Genomic View for CSF3R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSF3R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSF3R Gene

Regulatory Elements for CSF3R Gene

Transcription factor binding sites by QIAGEN in the CSF3R gene promoter:

Proteins for CSF3R Gene

  • Protein details for CSF3R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99062-CSF3R_HUMAN
    Recommended name:
    Granulocyte colony-stimulating factor receptor
    Protein Accession:
    Q99062
    Secondary Accessions:

    Protein attributes for CSF3R Gene

    Size:
    836 amino acids
    Molecular mass:
    92156 Da
    Quaternary structure:
    • Homodimer. The dimeric receptor binds two CSF3 molecules.
    Miscellaneous:
    • Mutations in CSF3R acquired in multipotent hematopoietic progenitor cells and resulting in truncated hyper-responsive forms of the receptor, have been identified in most cases of severe congenital neutropenia (SCN). Patients carrying these mutations are at risk for developing myelodysplastic syndromes and/or acute myeloid leukemia. Constitutive mutations leading to hyporesponsive forms of the receptor are responsible for the refractoriness to CSF3 treatment observed in some SCN patients

    Three dimensional structures from OCA and Proteopedia for CSF3R Gene

    Alternative splice isoforms for CSF3R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSF3R Gene

Proteomics data for CSF3R Gene at MOPED

Post-translational modifications for CSF3R Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn51, Asn93, Asn128, Asn134, Asn389, Asn474, Asn579, and Asn610

No data available for DME Specific Peptides for CSF3R Gene

Domains for CSF3R Gene

Gene Families for CSF3R Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
IUPHAR :

UniProtKB/Swiss-Prot:

CSF3R_HUMAN
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.:
    • Q99062
  • The box 1 motif is required for JAK interaction and/or activation.:
    • Q99062
  • Contains 5 fibronectin type-III domains.:
    • Q99062
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.:
    • Q99062
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.:
    • Q99062
genes like me logo Genes that share domains with CSF3R: view

Function for CSF3R Gene

Molecular function for CSF3R Gene

GENATLAS Biochemistry: colony stimulating factor 3 (granulocyte) receptor,also expressed in endothelial cells,20-25kDa,with an extended form expressed in the placenta and a soluble form
UniProtKB/Swiss-Prot Function: Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.

Gene Ontology (GO) - Molecular Function for CSF3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 7542747
GO:0004896 cytokine receptor activity IEA --
GO:0005515 protein binding IPI 17363902
genes like me logo Genes that share ontologies with CSF3R: view
genes like me logo Genes that share phenotypes with CSF3R: view

Animal Models for CSF3R Gene

MGI Knock Outs for CSF3R:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CSF3R Gene

Localization for CSF3R Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSF3R Gene

Isoform 2: Secreted.
Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CSF3R Gene COMPARTMENTS Subcellular localization image for CSF3R gene
Compartment Confidence
plasma membrane 5
extracellular 4
endosome 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CSF3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005887 integral component of plasma membrane TAS 7542747
genes like me logo Genes that share ontologies with CSF3R: view

Pathways for CSF3R Gene

genes like me logo Genes that share pathways with CSF3R: view

Gene Ontology (GO) - Biological Process for CSF3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response TAS 7542747
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction NAS 1371413
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0030593 neutrophil chemotaxis IEA --
genes like me logo Genes that share ontologies with CSF3R: view

Compounds for CSF3R Gene

(2) Drugbank Compounds for CSF3R Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Filgrastim
  • G-CSF
121181-53-1 target stimulator
Pegfilgrastim
  • G-CSF
208265-92-3 target agonist

(1) IUPHAR Ligand for CSF3R Gene

Ligand Type Action Affinity Pubmed IDs
G-CSF Agonist Agonist

(29) Novoseek inferred chemical compound relationships for CSF3R Gene

Compound -log(P) Hits PubMed IDs
gp 130 68.8 14
filgrastim 61.4 8
tyrosine 61.2 70
phosphotyrosine 42.4 2
retinoic acid 32.1 5
genes like me logo Genes that share compounds with CSF3R: view

Transcripts for CSF3R Gene

Unigene Clusters for CSF3R Gene

Colony stimulating factor 3 receptor (granulocyte):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CSF3R Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d ^ 17a ·
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - - - -
SP5:
SP6: - -
SP7: - -
SP8: - - -
SP9: -
SP10: - - - -
SP11:

ExUns: 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CSF3R Gene

GeneLoc Exon Structure for
CSF3R
ECgene alternative splicing isoforms for
CSF3R

Expression for CSF3R Gene

mRNA expression in normal human tissues for CSF3R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSF3R Gene

This gene is overexpressed in Whole Blood (46.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CSF3R Gene

SOURCE GeneReport for Unigene cluster for CSF3R Gene Hs.524517

mRNA Expression by UniProt/SwissProt for CSF3R Gene

Q99062-CSF3R_HUMAN
Tissue specificity: One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U-937 cells. Isoform GCSFR-3 is highly expressed in placenta
genes like me logo Genes that share expressions with CSF3R: view

Orthologs for CSF3R Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSF3R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSF3R 36
  • 98.92 (n)
  • 98.49 (a)
CSF3R 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CSF3R 36
  • 82.85 (n)
  • 74.28 (a)
CSF3R 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSF3R 36
  • 83.49 (n)
  • 76.98 (a)
CSF3R 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csf3r 36
  • 74.65 (n)
  • 63.06 (a)
Csf3r 16
Csf3r 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CSF3R 37
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSF3R 37
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csf3r 36
  • 74.97 (n)
  • 64.62 (a)
chicken
(Gallus gallus)
Aves CSF3R 36
  • 52.81 (n)
  • 38.88 (a)
CSF3R 37
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSF3R 37
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498116 36
  • 47.85 (n)
  • 35.23 (a)
zebrafish
(Danio rerio)
Actinopterygii csf3r 36
  • 43.5 (n)
  • 30.92 (a)
csf3r 37
  • 26 (a)
OneToOne
Species with no ortholog for CSF3R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSF3R Gene

ENSEMBL:
Gene Tree for CSF3R (if available)
TreeFam:
Gene Tree for CSF3R (if available)

Paralogs for CSF3R Gene

Paralogs for CSF3R Gene

genes like me logo Genes that share paralogs with CSF3R: view

Variants for CSF3R Gene

Sequence variations from dbSNP and Humsavar for CSF3R Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2275471 -- 36,473,693(-) TGGGC(A/G)TGCCT intron-variant
rs2275472 -- 36,469,066(-) GGAAC(A/G)TTGCC intron-variant
rs3832027 -- 36,479,707(+) GTCAA(-/G)GGCTT intron-variant
rs3917906 -- 36,484,203(-) GTAGG(A/G)CCTTG upstream-variant-2KB
rs3917907 -- 36,484,022(-) agggg(A/G)ctatt upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CSF3R Gene

Variant ID Type Subtype PubMed ID
nsv509202 CNV Insertion 20534489
nsv461073 CNV Loss 19166990
nsv520839 CNV Loss 19592680

Relevant External Links for CSF3R Gene

HapMap Linkage Disequilibrium report
CSF3R
Human Gene Mutation Database (HGMD)
CSF3R

Disorders for CSF3R Gene

(1) OMIM Diseases for CSF3R Gene (138971)

UniProtKB/Swiss-Prot

CSF3R_HUMAN
  • Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. {ECO:0000269 PubMed:19620628}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CSF3R Gene

(44) Novoseek inferred disease relationships for CSF3R Gene

Disease -log(P) Hits PubMed IDs
neutropenia, severe congenital 94.1 38
neutropenia 64.1 29
leukemogenesis 63.6 10
kostmanns syndrome 63.1 1
leukemia 61.7 25

Relevant External Links for CSF3R

Genetic Association Database (GAD)
CSF3R
Human Genome Epidemiology (HuGE) Navigator
CSF3R
genes like me logo Genes that share disorders with CSF3R: view

Publications for CSF3R Gene

  1. Identification of a nonsense mutation in the granulocyte-colony- stimulating factor receptor in severe congenital neutropenia. (PMID: 7514305) Dong F. … Lowenberg B. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 23
  2. Homodimeric cross-over structure of the human granulocyte colony- stimulating factor (GCSF) receptor signaling complex. (PMID: 16492764) Tamada T. … Kuroki R. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23
  3. An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. (PMID: 19620628) Plo I. … de Botton S. (J. Exp. Med. 2009) 3 4 23
  4. Tyrosine 729 of the G-CSF receptor controls the duration of receptor signaling: involvement of SOCS3 and SOCS1. (PMID: 16033816) Zhuang D. … Dong F. (J. Leukoc. Biol. 2005) 3 23 25
  5. Tyrosine kinase JAK1 is associated with the granulocyte-colony-stimulating factor receptor and both become tyrosine-phosphorylated after receptor activation. (PMID: 7512720) Nicholson S.E. … Layton J.E. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 23

Products for CSF3R Gene

Sources for CSF3R Gene

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