CSF3R Gene (Protein Coding)

Colony Stimulating Factor 3 Receptor

GC01M036466
GIFtS:
47
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 describe... See more...

Aliases for CSF3R Gene

Aliases for CSF3R Gene

  • Colony Stimulating Factor 3 Receptor 2 3 5
  • GCSFR 2 3 4
  • Colony Stimulating Factor 3 Receptor (Granulocyte) 2 3
  • Granulocyte Colony-Stimulating Factor Receptor 3 4
  • G-CSF Receptor 3 4
  • CD114 Antigen 3 4
  • G-CSF-R 3 4
  • CD114 3
  • CSF3R 5
  • SCN7 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]

CIViC Summary for CSF3R Gene

GeneCards Summary for CSF3R Gene

CSF3R (Colony Stimulating Factor 3 Receptor) is a Protein Coding gene. Diseases associated with CSF3R include Neutropenia, Severe Congenital, 7, Autosomal Recessive and Neutrophilia, Hereditary. Among its related pathways are Akt Signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity. An important paralog of this gene is IL12RB2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CSF3R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSF3R Gene

Genomics for CSF3R Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CSF3R Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSF3R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSF3R

Top Transcription factor binding sites by QIAGEN in the CSF3R gene promoter:
  • AML1a

Genomic Locations for CSF3R Gene

Latest Assembly
chr1:36,466,043-36,483,314
(GRCh38/hg38)
Size:
17,272 bases
Orientation:
Minus strand

Previous Assembly
chr1:36,931,644-36,948,915
(GRCh37/hg19 by Entrez Gene)
Size:
17,272 bases
Orientation:
Minus strand

chr1:36,931,644-36,948,879
(GRCh37/hg19 by Ensembl)
Size:
17,236 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 Structure • Gene Density

RefSeq DNA sequence for CSF3R Gene

Proteins for CSF3R Gene

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  • 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. Interacts with CEACAM1; down-regulates the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity).
    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

Protein Expression for CSF3R Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CSF3R Gene

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

Other Protein References for CSF3R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for CSF3R Gene

Domains & Families for CSF3R Gene

Gene Families for CSF3R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CSF3R Gene

InterPro:
Blocks:
  • Long hematopoietin receptor, gp130 family 2
  • Ig-like C2-type

Suggested Antigen Peptide Sequences for CSF3R Gene

GenScript: Design optimal peptide antigens:
  • Granulocyte colony-stimulating factor receptor (CSF3R_HUMAN)

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.
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

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  6. Cell Lines for research

Molecular function for CSF3R Gene

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.
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

Phenotypes From GWAS Catalog for CSF3R Gene

Gene Ontology (GO) - Molecular Function for CSF3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
GO:0005515 protein binding IPI 9864141
GO:0019955 cytokine binding IBA 21873635
GO:0038023 signaling receptor activity TAS 7542747
GO:0051916 granulocyte colony-stimulating factor binding IBA 21873635
genes like me logo Genes that share ontologies with CSF3R: view
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSF3R

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSF3R gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
mitochondrion 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CSF3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7542747
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CSF3R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CSF3R Gene

Pathways & Interactions for CSF3R Gene

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

Pathways by source for CSF3R Gene

2 Sino Biological pathways for CSF3R Gene
6 Qiagen pathways for CSF3R Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Molecular Mechanisms of Cancer
  • p38 Signaling
  • STAT3 Pathway

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

Drugs & Compounds for CSF3R Gene

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(26) Drugs for CSF3R Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Filgrastim Approved Pharma Target, stimulator, binder 0
Pegfilgrastim Approved Pharma Target, agonist, binder 0
Lenograstim Approved, Investigational Pharma Target, agonist 1379
Lipegfilgrastim Approved, Investigational Pharma Target, agonist 0
FavId Investigational Pharma Target 0

(13) 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

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mRNA/cDNA for CSF3R Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSF3R

Clone products for research

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

Expression for CSF3R Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CSF3R Gene

mRNA expression in normal human tissues for CSF3R Gene
mRNA expression by BioGPS for CSF3R GenemRNA expression by GTEx 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 and MOPED for CSF3R Gene



Protein tissue co-expression partners for CSF3R Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSF3R

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.

Evidence on tissue expression from TISSUES for CSF3R Gene

  • Blood(4.9)
  • Bone marrow(3.6)
  • Spleen(3)
  • Intestine(3)
  • Lung(2.6)
  • Lymph node(2.2)
  • Liver(2.1)
  • Nervous system(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSF3R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • skeleton
Regions:
Head and neck:
  • head
  • skull
Abdomen:
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with CSF3R: view

Primer products for research

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 29 30
  • 98.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CSF3R 29 30
  • 83.49 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CSF3R 29 30
  • 82.85 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Csf3r 29
  • 74.97 (n)
Mouse
(Mus musculus)
 Mammalia Csf3r 29 16 30
  • 74.65 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CSF3R 30
  • 50 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CSF3R 30
  • 46 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CSF3R 29 30
  • 52.81 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CSF3R 30
  • 34 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100498116 29
  • 47.85 (n)
Zebrafish
(Danio rerio)
 Actinopterygii csf3r 29 30
  • 43.5 (n)
 OneToOne
Species where no ortholog for CSF3R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CSF3R: view image
Alliance of Genome Resources:
Additional Orthologs for CSF3R

Paralogs for CSF3R Gene

Variants for CSF3R Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSF3R Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000996 Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive 36,473,444(-) T/C
NM_000760.4(CSF3R):c.664A>G (p.Met222Val) 		MISSENSE
1001074 Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive 36,467,968(-) A/C
NM_000760.4(CSF3R):c.1724-6T>G 		INTRON
1003147 Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive 36,471,452(-) C/T
NM_000760.4(CSF3R):c.1266G>A (p.Val422=) 		SYNONYMOUS
1003947 Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive 36,468,165(-) G/T
NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) 		MISSENSE
1009751 Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive 36,475,413(-) G/T
NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CSF3R Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1126990 CNV deletion 24896259
nsv461073 CNV loss 19166990
nsv509202 CNV insertion 20534489
nsv520839 CNV loss 19592680
nsv546000 CNV loss 21841781

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)

Additional Variant Information for CSF3R Gene

Human Gene Mutation Database (HGMD)
CSF3R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSF3R
Leiden Open Variation Database (LOVD)
CSF3R

SNP Genotyping and Copy Number Assays for research

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

Disorders for CSF3R Gene

MalaCards: The human disease database

(28) MalaCards diseases for CSF3R Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.
  • Neutropenia, severe congenital 7, autosomal recessive (SCN7) [MIM:617014]: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269 PubMed:24753537, ECO:0000269 PubMed:26324699}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CSF3R

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 ā€¦ de Botton S (The Journal of experimental medicine 2009) 3 4 22 72
  2. GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. (PMID: 26324699) Klimiankou M ā€¦ Welte K (Blood 2015) 3 4 72
  3. Inherited biallelic CSF3R mutations in severe congenital neutropenia. (PMID: 24753537) Triot A ā€¦ Klein C (Blood 2014) 3 4 72
  4. Homodimeric cross-over structure of the human granulocyte colony-stimulating factor (GCSF) receptor signaling complex. (PMID: 16492764) Tamada T ā€¦ Kuroki R (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22
  5. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. (PMID: 23656643) Maxson JE ā€¦ Tyner JW (The New England journal of medicine 2013) 3 72

ExternalLinks

View latest publications for CSF3R gene in Mastermind

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