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CSF3R colony stimulating factor 3 receptor [ Homo sapiens (human) ]

Gene ID: 1441, updated on 2-Nov-2024

Summary

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Official Symbol
CSF3Rprovided by HGNC
Official Full Name
colony stimulating factor 3 receptorprovided by HGNC
Primary source
HGNC:HGNC:2439
See related
Ensembl:ENSG00000119535 MIM:138971; AllianceGenome:HGNC:2439
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCN7; CD114; GCSFR
Summary
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]
Expression
Biased expression in bone marrow (RPKM 133.9), appendix (RPKM 79.2) and 5 other tissues See more
Orthologs
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Genomic context

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See CSF3R in Genome Data Viewer
Location:
1p34.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36466043..36483314, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36328923..36346193, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36931644..36948915, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984940 Neighboring gene organic solute carrier partner 1 Neighboring gene Sharpr-MPRA regulatory region 11440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 669 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36929292-36930491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36931829-36932691 Neighboring gene mitochondrial ribosomal protein S15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36946417-36947202 Neighboring gene Sharpr-MPRA regulatory region 4345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 757 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:36989208-36989708 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:36989709-36990209 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36999986-37000486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:37000487-37000987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 759 Neighboring gene Sharpr-MPRA regulatory region 1123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37054575-37055075 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7558 Neighboring gene ferritin light chain pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 760 Neighboring gene uncharacterized LOC107984941 Neighboring gene uncharacterized LOC105378648

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prevalence of a new auto-activating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia. Beekman R, et al. Haematologica, 2013 May. PMID 23508011, Free PMC Article
  2. Unique structural determinants for Stat3 recruitment and activation by the granulocyte colony-stimulating factor receptor at phosphotyrosine ligands 704 and 744. Shao H, et al. J Immunol, 2006 Mar 1. PMID 16493051
  3. Association with the single-nucleotide polymorphism (Glu785Lys) of the granulocyte colony-stimulating factor receptor with myelodysplastic syndromes and acute myeloid leukemia with multlineage dysplasia. Platzbecker U, et al. Leukemia, 2006 Dec. PMID 17024119
  4. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Link DC, et al. Blood, 2007 Sep 1. PMID 17494858, Free PMC Article
  5. G-CSF receptor mutations in patients with congenital neutropenia. Germeshausen M, et al. Curr Opin Hematol, 2008 Jul. PMID 18536571

See all (157) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Interactions of the CSF3R polymorphism and early stress on future orientation: evidence for the differential model of stress-related growth.
    Title: Interactions of the CSF3R polymorphism and early stress on future orientation: evidence for the differential model of stress-related growth.
  2. Enhanced MAPK signaling induced by CSF3R mutants confers dependence to DUSP1 for leukemic transformation.
    Title: Enhanced MAPK signaling induced by CSF3R mutants confers dependence to DUSP1 for leukemic transformation.
  3. Identification of CSF3R Mutations in B-Lineage Acute Lymphoblastic Leukemia Using Comprehensive Cancer Panel and Next-Generation Sequencing.
    Title: Identification of CSF3R Mutations in B-Lineage Acute Lymphoblastic Leukemia Using Comprehensive Cancer Panel and Next-Generation Sequencing.
  4. CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia.
    Title: CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia.
  5. Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.
    Title: Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.
  6. Gene Expression of CSF3R/CD114 Is Associated with Poorer Patient Survival in Glioma.
    Title: Gene Expression of CSF3R/CD114 Is Associated with Poorer Patient Survival in Glioma.
  7. The RNA m[6]A demethylase ALKBH5 drives emergency granulopoiesis and neutrophil mobilization by upregulating G-CSFR expression.
    Title: The RNA m(6)A demethylase ALKBH5 drives emergency granulopoiesis and neutrophil mobilization by upregulating G-CSFR expression.
  8. Integrated transcriptome, proteome and single-cell sequencing uncover the prognostic and immunological features of colony-stimulating factor 3 receptor in pan-cancer.
    Title: Integrated transcriptome, proteome and single-cell sequencing uncover the prognostic and immunological features of colony-stimulating factor 3 receptor in pan-cancer.
  9. [Analysis of CSF3R Gene Mutations and Clinical Characteristics in Patients with t(8;21) Acute Myeloid Leukemia].
    Title: [Analysis of CSF3R Gene Mutations and Clinical Characteristics in Patients with t(8;21) Acute Myeloid Leukemia].
  10. Mutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity.
    Title: Mutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity.
Submit: New GeneRIF Correction See all GeneRIFs (113)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
MedGen: C4310764 OMIM: 617014 GeneReviews: Not available
Compare labs
Hereditary neutrophilia
MedGen: C0543669 OMIM: 162830 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables granulocyte colony-stimulating factor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in amelogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response TAS
Traceable Author Statement
more info
 PubMed 
involved_in neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane TAS
Traceable Author Statement
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
granulocyte colony-stimulating factor receptor
Names
CD114 antigen
G-CSF receptor
G-CSF-R
colony stimulating factor 3 receptor (granulocyte)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016270.1 RefSeqGene

    Range
    4595..21866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_144

mRNA and Protein(s)

  1. NM_000760.4 → NP_000751.1  granulocyte colony-stimulating factor receptor isoform a precursor

    See identical proteins and their annotated locations for NP_000751.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    BC053585, DA858302
    Consensus CDS
    CCDS413.1
    UniProtKB/Swiss-Prot
    Q99062
    UniProtKB/TrEMBL
    Q1ZYL6
    Related
    ENSP00000362198.2, ENST00000373106.6
    Conserved Domains (4) summary
    smart00060
    Location:527 → 607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249 → 329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430 → 514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24 → 110
    Lep_receptor_Ig; Ig-like C2-type domain

  2. NM_156039.3 → NP_724781.1  granulocyte colony-stimulating factor receptor isoform c precursor

    See identical proteins and their annotated locations for NP_724781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1, resulting in a longer isoform (c) compared to isoform a.
    Source sequence(s)
    BC053585, BX370109, DA858302, M59820
    Consensus CDS
    CCDS414.1
    UniProtKB/TrEMBL
    Q1ZYL6
    Related
    ENSP00000362195.1, ENST00000373103.5
    Conserved Domains (4) summary
    smart00060
    Location:527 → 607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249 → 329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430 → 514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24 → 110
    Lep_receptor_Ig; Ig-like C2-type domain

  3. NM_172313.3 → NP_758519.1  granulocyte colony-stimulating factor receptor isoform d precursor

    See identical proteins and their annotated locations for NP_758519.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (d) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC053585, BX370109, DA858302, X55720
    Consensus CDS
    CCDS412.1
    UniProtKB/TrEMBL
    Q1ZYL6
    Related
    ENSP00000362196.1, ENST00000373104.5
    Conserved Domains (5) summary
    smart00060
    Location:527 → 607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249 → 329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430 → 514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24 → 110
    Lep_receptor_Ig; Ig-like C2-type domain
    cl21522
    Location:122 → 220
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    36466043..36483314 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270493.1 → XP_005270550.1  granulocyte colony-stimulating factor receptor isoform X3

    UniProtKB/TrEMBL
    Q1ZYL6
    Conserved Domains (4) summary
    smart00060
    Location:527 → 607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249 → 329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430 → 514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24 → 110
    Lep_receptor_Ig; Ig-like C2-type domain

  2. XM_011540749.1 → XP_011539051.1  granulocyte colony-stimulating factor receptor isoform X2

    UniProtKB/TrEMBL
    Q1ZYL6
    Conserved Domains (4) summary
    smart00060
    Location:527 → 607
    FN3; Fibronectin type 3 domain
    cd00063
    Location:249 → 329
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:430 → 514
    fn3; Fibronectin type III domain
    pfam06328
    Location:24 → 110
    Lep_receptor_Ig; Ig-like C2-type domain

  3. XM_047446753.1 → XP_047302709.1  granulocyte colony-stimulating factor receptor isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    36328923..36346193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334546.1 → XP_054190521.1  granulocyte colony-stimulating factor receptor isoform X3

  2. XM_054334545.1 → XP_054190520.1  granulocyte colony-stimulating factor receptor isoform X2

  3. XM_054334544.1 → XP_054190519.1  granulocyte colony-stimulating factor receptor isoform X1

  4. XM_054334547.1 → XP_054190522.1  granulocyte colony-stimulating factor receptor isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_156038.2: Suppressed sequence

    Description
    NM_156038.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99062.1 GenPept UniProtKB/Swiss-Prot:Q99062

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