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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
    mouse all
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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 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
    		not available
    Hereditary neutrophilia
    MedGen: C0543669 OMIM: 162830 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

      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

      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

      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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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