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Aliases for CSF3R Gene

Aliases for CSF3R Gene

  • Colony Stimulating Factor 3 Receptor 2 3 5
  • Colony Stimulating Factor 3 Receptor (Granulocyte) 2 3
  • G-CSF Receptor 3 4
  • CD114 Antigen 3 4
  • G-CSF-R 3 4
  • GCSFR 3 4
  • CD114 3

External Ids for CSF3R Gene

Previous HGNC Symbols for CSF3R Gene

  • CD114

Previous GeneCards Identifiers for CSF3R Gene

  • GC01M036753
  • GC01M035986
  • GC01M036359
  • GC01M036600
  • GC01M036704
  • GC01M036931
  • GC01M035048

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) is a Protein Coding gene. Diseases associated with CSF3R include neutrophilia, hereditary and chronic neutrophilic leukemia. Among its related pathways are Immune System and Interleukin-3, 5 and GM-CSF signaling. 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

Regulatory Elements for CSF3R Gene

Promoters for CSF3R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CSF3R on UCSC Golden Path with GeneCards custom track

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

Genomic Location for CSF3R Gene

Chromosome:
1
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

Genes around CSF3R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSF3R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSF3R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSF3R Gene

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

    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

  • Glycosylation at Asn 51, Asn 93, Asn 128, Asn 134, Asn 389, Asn 474, Asn 579, and Asn 610
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CSF3R (G-CSF R/CD114)

No data available for DME Specific Peptides for CSF3R Gene

Domains & Families for CSF3R Gene

Suggested Antigen Peptide Sequences for CSF3R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99062

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CSF3R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CSF3R Gene

MGI Knock Outs for CSF3R:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CSF3R Gene

Pathways & Interactions for CSF3R Gene

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

SIGNOR curated interactions for CSF3R Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CSF3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030593 neutrophil chemotaxis IEA --
genes like me logo Genes that share ontologies with CSF3R: view

Drugs & Compounds for CSF3R Gene

(24) Drugs for CSF3R Gene - From: Novoseek, DGIdb, DrugBank, IUPHAR, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Filgrastim Approved Pharma binder, Target, stimulator 0
Pegfilgrastim Approved Pharma binder, Target, agonist 0
Neulasta Approved January 2002 Pharma 0
Neutroval Approved August 2012 Pharma 0
FavId Investigational Pharma Target 0

(16) Additional Compounds for CSF3R Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x46.8).

Protein differential expression in normal tissues from HIPED for CSF3R Gene

This gene is overexpressed in Bone marrow stromal cell (47.9) and Heart (19.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CSF3R: view

Protein tissue co-expression partners for CSF3R Gene

Primer Products

In Situ Assay Products

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 35
  • 98.92 (n)
  • 98.49 (a)
CSF3R 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CSF3R 36
  • 74 (a)
OneToOne
CSF3R 35
  • 82.85 (n)
  • 74.28 (a)
dog
(Canis familiaris)
Mammalia CSF3R 35
  • 83.49 (n)
  • 76.98 (a)
CSF3R 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Csf3r 16
Csf3r 36
  • 63 (a)
OneToOne
Csf3r 35
  • 74.65 (n)
  • 63.06 (a)
oppossum
(Monodelphis domestica)
Mammalia CSF3R 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSF3R 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csf3r 35
  • 74.97 (n)
  • 64.62 (a)
chicken
(Gallus gallus)
Aves CSF3R 35
  • 52.81 (n)
  • 38.88 (a)
CSF3R 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSF3R 36
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498116 35
  • 47.85 (n)
  • 35.23 (a)
zebrafish
(Danio rerio)
Actinopterygii csf3r 36
  • 26 (a)
OneToOne
csf3r 35
  • 43.5 (n)
  • 30.92 (a)
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
rs3917973 - 36,472,668(-) CCCCA(C/G/T)GCTGC reference, missense
rs3918018 - 36,472,277(-) GGAGC(A/G)ACTGG reference, missense
rs3917974 - 36,472,100(-) GAGGC(A/G)GCTGG reference, missense
rs3918019 - 36,471,505(-) CCCAG(A/G)AGGTG reference, missense
rs3918020 - 36,469,807(-) GGCCC(A/G)AGACC reference, missense

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

Variation tolerance for CSF3R Gene

Residual Variation Intolerance Score: 84.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSF3R Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSF3R Gene

Disorders for CSF3R Gene

MalaCards: The human disease database

(18) MalaCards diseases for CSF3R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neutrophilia, hereditary
  • hereditary neutrophilia
chronic neutrophilic leukemia
  • cnl
subacute myeloid leukemia
  • atypical chronic myeloid leukemia
severe congenital neutropenia
  • congenital agranulocytosis
neutropenia, severe congenital 3, autosomal recessive
  • severe congenital neutropenia autosomal recessive 3
- elite association - COSMIC cancer census association via MalaCards
Search CSF3R in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CSF3R

Genetic Association Database (GAD)
CSF3R
Human Genome Epidemiology (HuGE) Navigator
CSF3R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSF3R
genes like me logo Genes that share disorders with CSF3R: view

No data available for Genatlas for CSF3R Gene

Publications for CSF3R Gene

  1. 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 67
  2. 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
  3. Site-specific ubiquitination determines lysosomal sorting and signal attenuation of the granulocyte colony-stimulating factor receptor. (PMID: 19453968) WAPlfler A. … Touw I.P. (Traffic 2009) 3 23
  4. G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. (PMID: 19794089) Beel K. … Vandenberghe P. (Haematologica 2009) 3 23
  5. G-CSF receptor mutations in patients with congenital neutropenia. (PMID: 18536571) Germeshausen M. … Welte K. (Curr. Opin. Hematol. 2008) 3 23

Products for CSF3R Gene

Sources for CSF3R Gene

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