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CSF3R Gene

protein-coding   GIFtS: 66
GCID: GC01M036931

Colony Stimulating Factor 3 Receptor (Granulocyte)


(Previous symbol: CD114)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Colony Stimulating Factor 3 Receptor (Granulocyte)1 2     CD114 Antigen2 3
GCSFR2 3 5     G-CSF Receptor2 3
CD1141 2     Granulocyte Colony-Stimulating Factor Receptor2
G-CSF-R2 3     

External Ids:    HGNC: 24391   Entrez Gene: 14412   Ensembl: ENSG000001195357   OMIM: 1389715   UniProtKB: Q990623   
ORGUL members:         

Export aliases for CSF3R gene to outside databases

Previous GC identifers: GC01M036753 GC01M035986 GC01M036359 GC01M036600 GC01M036704 GC01M035048


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include cytokine receptor activity and receptor activity. An important paralog of this gene is OSMR.

UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062
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 Wiki entry for CSF3R (Granulocyte colony-stimulating factor receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSF3R gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSF3R promoter sequence
   Search Chromatin IP Primers for CSF3R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF3R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p35-p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p35-p34.3

CSF3R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF3R gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M036931:  view genomic region     (about GC identifiers)

Start:
36,931,644 bp from pter      End:
36,948,915 bp from pter
Size:
17,272 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062 (See protein sequence)
Recommended Name: Granulocyte colony-stimulating factor receptor precursor  
Size: 836 amino acids; 92156 Da
Subunit: 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
2 PDB 3D structures from and Proteopedia for CSF3R:
1AZ7 (3D)        2D9Q (3D)    
Alternative splicing: 4 isoforms:  Q99062-1   Q99062-2   Q99062-3   Q99062-4   

Explore the universe of human proteins at neXtProt for CSF3R: NX_Q99062

Explore proteomics data for CSF3R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn51, Asn93, Asn128, Asn134, Asn389, Asn474, Asn579, Asn610
  • Modification sites at PhosphoSitePlus

  • See CSF3R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000751.1  NP_724781.1  NP_758519.1  

    ENSEMBL proteins: 
     ENSP00000362198   ENSP00000362196   ENSP00000362195   ENSP00000435218   ENSP00000431639  
     ENSP00000332180   ENSP00000355406   ENSP00000401588   ENSP00000397568   ENSP00000345013  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Granulocyte colony-stimulating factor receptor
    Prolactin receptor family

    4 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR010457 IgC2-like_lig-bd
     IPR003529 Hematopoietin_rcpt_Gp130_CS

    Graphical View of Domain Structure for InterPro Entry Q99062

    ProtoNet protein and cluster: Q99062

    2 Blocks protein domains:
    IPB003529 Long hematopoietin receptor
    IPB010457 Ig-like C2-type


    UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 2 subfamily
    Similarity: Contains 5 fibronectin type-III domains
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    CSF3R for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSF3R_HUMAN, Q99062
    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

         Genatlas biochemistry entry for CSF3R:
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS7542747
    GO:0004896cytokine receptor activity IEA--
    GO:0005515protein binding IPI17363902
         
    CSF3R for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CSF3R:
     Upregulation of Wnt/beta-caten 

         3 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Csf3r):
     cellular  hematopoietic system  immune system 

    CSF3R for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CSF3R: Csf3rtm2Eur Csf3rtm1Link

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSF3R
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSF3R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSF3R

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CSF3R_HUMAN, Q99062: Isoform 2: Secreted (Probable)
    CSF3R_HUMAN, Q99062: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    endosome2
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral component of plasma membrane TAS7542747
    GO:0016020membrane ----

    CSF3R for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CSF3R About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    3PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    4ERK Signaling
    Molecular Mechanisms of Cancer0.51
    5Selected targets of C EBPalpha
    Selected targets of C EBPalpha

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF3R (see all 6)
        STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling
    Akt Signaling



    5 Kegg Pathways  (Kegg details for CSF3R):
        Cytokine-cytokine receptor interaction
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway
    Hematopoietic cell lineage
    Pathways in cancer


    CSF3R for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF3R: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CSF3R

    Selected Interacting proteins for CSF3R (Q990621, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT3P407631, 2, 3EBI-7331284,EBI-518675 MINT-8037913 MINT-8037928 MINT-8035782 MINT-8035767 I2D: score=3 
    UBCP0CG481, 2, 3EBI-7331284,EBI-3390054 MINT-4787430 MINT-4787410 I2D: score=2 
    GRB2P629933I2D: score=4 
    HCKP086313I2D: score=4 
    SHC1P293533I2D: score=4 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006952defense response TAS7542747
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction NAS1371413
    GO:0030593neutrophil chemotaxis IEA--
    GO:0042475odontogenesis of dentin-containing tooth IEA--

    CSF3R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CSF3R

    2 DrugBank Compounds for CSF3R    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PegfilgrastimG-CSF (see all 4)208265-92-3targetagonist16033816 12944913 15082029 17127322 17001306 15949269
    FilgrastimG-CSF (see all 3)121181-53-1targetstimulator17127322 17001306 16033816 15949269 17494858

    1 IUPHAR Ligand for CSF3R (Granulocyte colony-stimulating factor receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    G-CSF
    AgonistAgonist--

    Selected Novoseek inferred chemical compound relationships for CSF3R gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gp 130 68.8 24 8264582 (2), 10092661 (2), 8608222 (1), 11098061 (1) (see all 12)
    filgrastim 61.4 13 16492764 (3), 10537111 (1), 11944966 (1), 12488547 (1) (see all 6)
    tyrosine 61.2 93 7489718 (5), 16033816 (4), 9015216 (4), 8547634 (3) (see all 48)
    phosphotyrosine 42.4 4 15470047 (1), 16493051 (1)
    retinoic acid 32.1 6 14604978 (1), 7506564 (1), 7543855 (1), 11023524 (1) (see all 5)
    methylcellulose 30.1 2 11911419 (1), 10848795 (1)
    thymidine 22.8 3 9529133 (1), 10942233 (1), 9590146 (1)
    nitroblue tetrazolium 13.2 2 10339483 (1)
    imatinib 11.5 1 17453242 (1)
    dmso 7.39 2 7506564 (1)



    CSF3R for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CSF3R gene (4 alternative transcripts): 
    NM_000760.3  NM_156039.3  NM_172313.2  NM_156038.2  

    Unigene Cluster for CSF3R:

    Colony stimulating factor 3 receptor (granulocyte)
    Hs.524517  [show with all ESTs]
    Unigene Representative Sequence: NM_156039
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373106(uc001caw.2) ENST00000373104(uc001cav.2) ENST00000373103(uc001cax.2)
    ENST00000480825 ENST00000464465 ENST00000487540 ENST00000484762 ENST00000466138
    ENST00000464365 ENST00000469380 ENST00000526980 ENST00000489551 ENST00000533491
    ENST00000331941 ENST00000361632 ENST00000418048 ENST00000440588 ENST00000338937

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    Additional mRNA sequence: 

    AK307242.1 BC040954.1 BC053585.1 DQ424902.1 M59818.1 M59819.1 M59820.1 X55720.1 
    X55721.1 

    22 DOTS entries:

    DT.95220087  DT.100846008  DT.451746  DT.100771102  DT.97837491  DT.100846007  DT.91906674  DT.92444513 
    DT.100706714  DT.100724927  DT.91762962  DT.95073863  DT.100845991  DT.215266  DT.100845989  DT.100846001 
    DT.95189922  DT.97818367  DT.91795491  DT.92444511  DT.95220114  DT.95220162 

    Selected AceView cDNA sequences (see all 227):

    BX382127 BC053585 C01381 BU752017 BQ010933 BI058814 R32263 CF529484 
    NM_156038 BM769186 BX397385 NM_000760 M59818 CR612645 BQ182740 NM_156039 
    BQ012336 BG005088 BX396368 BQ013229 BI058813 CB960089 BX377070 AI219619 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CSF3R (see all 11)    About this scheme

    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:                                                                                                                                                            

    ExUns: 17b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CSF3R

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CSF3R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCATCCAG
    CSF3R Expression
    About this image


    CSF3R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    CSF3R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSF3R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524517

    UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CSF3R gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csf3r1 , 5 colony stimulating factor 3 receptor (granulocyte)1, 5 74.65(n)1
    63.06(a)1
      4 (59.77 cM)5
    129861  NM_007782.31  NP_031808.21 
     1260245505 
    chicken
    (Gallus gallus)
    Aves CSF3R1 colony stimulating factor 3 receptor (granulocyte) 52.81(n)
    38.88(a)
      419620  NM_001030898.2  NP_001026069.1 
    lizard
    (Anolis carolinensis)
    Reptilia CSF3R6
    colony stimulating factor 3 receptor (granulocyte)...
    34(a)
    1 ↔ 1
    GL343610.1(286781-308697)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004981161 granulocyte colony-stimulating factor receptor-like 47.85(n)
    35.23(a)
      100498116  XM_002938741.2  XP_002938787.2 
    zebrafish
    (Danio rerio)
    Actinopterygii csf3r1 colony stimulating factor 3 receptor (granulocyte) 43.5(n)
    30.92(a)
      100134935  NM_001113377.1  NP_001106848.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSF3R gene
    OSMR2  IL6ST2  IL31RA2  LIFR2  IL12RB22  

    CSF3R for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CSF3R (see all 578)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219184261,2,,4
    C,FHereditary neutrophilia (NEUTROPHILIA)4 pathogenic137014421(-) GCTCAA/C/TCTGCC 6 N T mis11NA 4484
    rs112952161,2
    C,F--35064473(+) TGGGC-/G/GG  
            
    GGGGG
    3 -- int1 trp33NA CSA 6
    rs2018142021,2
    C--36936410(+) GTGTG-/GT/TG 
            
    AGAGA
    3 -- int10--------
    rs39179301,2
    C,F--36944061(-) cctccG/Acctgc 3 -- int12Minor allele frequency- A:0.04NS 86
    rs38320271,2
    C,F--36945308(+) GTCAAG/-GGCTT 3 -- int15Minor allele frequency- -:0.25NS NA 92
    rs2008490041,2
    C--36947907(+) TGGGC-/GGGGGGG 3 -- int10--------
    rs1131188411,2
    C,F--36950864(+) ATCTCG/AGCTCA 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1855421911,2
    --37012572(+) CTCCCC/GCCGTG 3 -- ds50010--------
    rs39180031,2
    C,F,H--37012596(-) CTTAGG/AGCACA 3 -- ds500125Minor allele frequency- A:0.08NS EA NA WA 2784
    rs2005599461,2
    C--37012720(+) AGGAGA/GGNNNN 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CSF3R (36931644 - 36948915 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CSF3R:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509202CNV Insertion20534489
    nsv461073CNV Loss19166990
    nsv520839CNV Loss19592680

    Human Gene Mutation Database (HGMD): CSF3R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CSF3R
    DNA2.0 Custom Variant and Variant Library Synthesis for CSF3R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138971   
    OMIM disorders: 162830  
    UniProtKB/Swiss-Prot: CSF3R_HUMAN, Q99062
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for CSF3R (see all 49):    
    About MalaCards
    chronic neutrophilic leukemia    neutrophilia, hereditary    subacute myeloid leukemia    idiopathic neutropenia
    severe congenital neutropenia    neutropenia    pulmonary alveolar proteinosis    polycythemia vera
    myelodysplastic syndromes    polycythemia    myeloproliferative disorder    diphtheria
    fibromatosis    thrombocytosis    monocytic leukemia    aplastic anemia
    acute leukemia    myeloid leukemia    bladder carcinoma    acute myeloid leukemia

    2 diseases from the University of Copenhagen DISEASES database for CSF3R:
    Neutropenia     Leukemia

    CSF3R for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CSF3R gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neutropenia, severe congenital 94.1 49 11110716 (2), 9691084 (2), 9885206 (2), 9001427 (2) (see all 31)
    neutropenia 64.1 41 18536571 (3), 19794089 (3), 11238134 (2), 12670333 (2) (see all 22)
    leukemogenesis 63.6 14 18536571 (3), 8876234 (1), 19120359 (1), 16620545 (1) (see all 8)
    kostmanns syndrome 63.1 1 15677477 (1)
    leukemia 61.7 29 16670064 (3), 11238134 (2), 12670333 (2), 12475443 (2) (see all 19)
    myelodysplastic syndromes 58.8 17 12670333 (2), 18637807 (2), 15370243 (2), 9548419 (2) (see all 10)
    myeloid leukemia 54.5 9 1701353 (1), 7509213 (1), 9815618 (1), 12788061 (1) (see all 8)
    pulmonary alveolar proteinosis 53.4 1 20040766 (1)
    myeloproliferative disorders 41.4 1 19620628 (1)
    leukemia promyelocytic acute 41.2 1 9590146 (1)

    Genetic Association Database (GAD): CSF3R
    Human Genome Epidemiology (HuGE) Navigator: CSF3R (11 documents)

    Export disorders for CSF3R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CSF3R gene, integrated from 10 sources (see all 384):
    (articles sorted by number of sources associating them with CSF3R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tyrosine 729 of the G-CSF receptor controls the duration of receptor signaling: involvement of SOCS3 and SOCS1. (PubMed id 16033816)1, 7, 9 Zhuang D....Dong F. (J. Leukoc. Biol. 2005)
    2. An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. (PubMed id 19620628)1, 2, 9 Plo I.... de Botton S. (J. Exp. Med. 2009)
    3. Homodimeric cross-over structure of the human granulocyte colony- stimulating factor (GCSF) receptor signaling complex. (PubMed id 16492764)1, 2, 9 Tamada T....Kuroki R. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    4. Identification of a nonsense mutation in the granulocyte-colony- stimulating factor receptor in severe congenital neutropenia. (PubMed id 7514305)1, 2, 9 Dong F.... Lowenberg B. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    5. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
    6. Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes. (PubMed id 19258923)1, 4 Siezen C.L....Janssen R. (Pediatr. Infect. Dis. J. 2009)
    7. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    8. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. (PubMed id 16985178)1, 4 Germeshausen M....Welte K. (Blood 2007)
    9. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. (PubMed id 17494858)1, 7 Link D.C....Ley T.J. (Blood 2007)
    10. Novel role of WD40 and SOCS box protein-2 in steady-state distribution of granulocyte colony-stimulating factor receptor and G-CSF-controlled proliferation and differentiation signaling. (PubMed id 17001306)1, 7 Erkeland S.J....Touw I.P. (Oncogene 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1441 HGNC: 2439 AceView: CSF3R Ensembl:ENSG00000119535 euGenes: HUgn1441
    ECgene: CSF3R Kegg: 1441 H-InvDB: CSF3R

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CSF3R Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSF3R Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/csf3r/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CSF3R gene:
    Search GeneIP for patents involving CSF3R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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