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    Csf2ra colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) [ Mus musculus (house mouse) ]

    Gene ID: 12982, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Csf2raprovided by MGI
    Official Full Name
    colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)provided by MGI
    Primary source
    MGI:MGI:1339754
    See related
    Ensembl:ENSMUSG00000059326 AllianceGenome:MGI:1339754
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CD116; Csfgmra; GM-CSFR; GM-CSF-Ra
    Summary
    Predicted to enable cytokine receptor activity. Predicted to be involved in cell surface receptor signaling pathway via JAK-STAT; granulocyte-macrophage colony-stimulating factor signaling pathway; and positive regulation of leukocyte proliferation. Predicted to be located in membrane. Predicted to be part of granulocyte macrophage colony-stimulating factor receptor complex. Is expressed in early conceptus; female reproductive system; and liver. Used to study pulmonary alveolar proteinosis. Human ortholog(s) of this gene implicated in pulmonary alveolar proteinosis. Orthologous to human CSF2RA (colony stimulating factor 2 receptor subunit alpha). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 16.7), adrenal adult (RPKM 15.6) and 28 other tissues See more
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    Genomic context

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    See Csf2ra in Genome Data Viewer
    Location:
    19 D3; 19 56.89 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (61205629..61221141, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (61217191..61228461, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene 6020 Neighboring gene STARR-positive B cell enhancer ABC_E10002 Neighboring gene mortality factor 4 like 2 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr19:61257593-61257894 Neighboring gene M-phase specific PLK1 intereacting protein like 1 Neighboring gene STARR-positive B cell enhancer ABC_E5715 Neighboring gene STARR-positive B cell enhancer ABC_E7682 Neighboring gene STARR-positive B cell enhancer ABC_E9054 Neighboring gene STARR-positive B cell enhancer ABC_E7683 Neighboring gene STARR-positive B cell enhancer ABC_E2533 Neighboring gene predicted gene 4242 Neighboring gene STARR-positive B cell enhancer ABC_E5716 Neighboring gene DCP1 decapping enzyme homolog A pseudogene Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene predicted gene, 20762

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A human GM-CSF receptor expressed in transgenic mice stimulates proliferation and differentiation of hemopoietic progenitors to all lineages in response to human GM-CSF. Nishijima I, et al. Mol Biol Cell, 1995 May. PMID 7545029, Free PMC Article
    2. A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption. Shima K, et al. Am J Physiol Lung Cell Mol Physiol, 2022 Mar 1. PMID 35043685, Free PMC Article
    3. The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse. Disteche CM, et al. Nat Genet, 1992 Aug. PMID 1363815
    4. Neutrophil GM-CSF receptor dynamics in acute lung injury. De Alessandris S, et al. J Leukoc Biol, 2019 Jun. PMID 30942918, Free PMC Article
    5. Cxxc Finger Protein 1 Positively Regulates GM-CSF-Derived Macrophage Phagocytosis Through Csf2rα-Mediated Signaling. Hui Z, et al. Front Immunol, 2018. PMID 30154795, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption.
      Title: A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption.
    2. These data show that loss of membrane GM-CSFRalpha following GM-CSF exposure does not preclude sustained GM-CSF/GM-CSFRalpha signaling and that this receptor plays a key role in ligand clearance. Hence neutrophilic activation via GM-CSFR may play an important role in neutrophilic lung inflammation even in the absence of high GM-CSF levels or GM-CSFRalpha expression.
      Title: Neutrophil GM-CSF receptor dynamics in acute lung injury.
    3. we have demonstrated that CFP1 plays a crucial role in GM-CSF-derived macrophages, in which it positively regulates phagocytic and bactericidal activity mainly through promoting Csf2ralpha expression and the subsequent activation of downstream pathways.
      Title: Cxxc Finger Protein 1 Positively Regulates GM-CSF-Derived Macrophage Phagocytosis Through Csf2rα-Mediated Signaling.
    4. GM-CSF Ralpha blockade in relapsing-remitting experimental autoimmune encephalomyelitis prevented disease relapses and inhibited T cell responses specific for both the inducing and spread myelin peptides
      Title: Targeting the GM-CSF receptor for the treatment of CNS autoimmunity.
    5. a STOP mutation in the GM-CSFRalpha chain, leading to a complete and specific deficiency in GM-CSF signaling, is reported.
      Title: Frontline Science: Coincidental null mutation of Csf2rα in a colony of PI3Kγ-/- mice causes alveolar macrophage deficiency and fatal respiratory viral infection.
    6. GM-CSFRalpha levels peaked between E13 and E15 in the brain.
      Title: Stage-specific changes in the levels of granulocyte-macrophage colony-stimulating factor and its receptor in the biological fluid and organ of mouse fetuses.
    7. Loss of the CSF2RA gene may be a critical mutation explaining the high incidence of loss of sex chromosomes associated with the t(8;21)(q22;q22) translocation.
      Title: Negative effects of GM-CSF signaling in a murine model of t(8;21)-induced leukemia.
    8. ability to detect GM-CSF receptor expression in experimental studies should greatly facilitate the analysis of its role in immune pathologies[GM-CSF receptor alpha]
      Title: Characterisation of the expression and function of the GM-CSF receptor alpha-chain in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 MGI

    Function Evidence Code Pubs
    enables cytokine receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in granulocyte colony-stimulating factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in granulocyte-macrophage colony-stimulating factor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of leukocyte proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of granulocyte macrophage colony-stimulating factor receptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    Names
    GM-CSF-R-alpha
    GM-CSFRalpha
    GMCSFR-alpha
    GMR-alpha
    colony stimulating factor 2 receptor alpha chain

    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.

    mRNA and Protein(s)

    1. NM_009970.2 → NP_034100.2  granulocyte-macrophage colony-stimulating factor receptor subunit alpha precursor

      See identical proteins and their annotated locations for NP_034100.2

      Status: VALIDATED

      Source sequence(s)
      AW826169, BB664140, BU614102, M85078
      Consensus CDS
      CCDS29946.1
      UniProtKB/Swiss-Prot
      E9QJX0, Q00941
      UniProtKB/TrEMBL
      B2RWT6
      Related
      ENSMUSP00000075423.7, ENSMUST00000076046.7
      Conserved Domains (2) summary
      cd00063
      Location:227 → 315
      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 ...
      pfam09240
      Location:130 → 223
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      61205629..61221141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161420.1 → XP_036017313.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X7

      Conserved Domains (2) summary
      cd00063
      Location:53 → 141
      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 ...
      cl21522
      Location:1 → 49
      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 ...

    2. XM_036161419.1 → XP_036017312.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6

      Conserved Domains (2) summary
      cd00063
      Location:53 → 141
      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 ...
      cl21522
      Location:1 → 49
      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 ...

    3. XM_017318052.3 → XP_017173541.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X4

      UniProtKB/TrEMBL
      B2RWT6
      Conserved Domains (3) summary
      cd00063
      Location:259 → 337
      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 ...
      pfam09240
      Location:164 → 255
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:74 → 143
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    4. XM_011247131.4 → XP_011245433.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

      UniProtKB/TrEMBL
      B2RWT6
      Conserved Domains (3) summary
      cd00063
      Location:259 → 337
      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 ...
      pfam09240
      Location:164 → 255
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:74 → 143
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    5. XM_011247130.4 → XP_011245432.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

      UniProtKB/TrEMBL
      B2RWT6
      Conserved Domains (3) summary
      cd00063
      Location:259 → 347
      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 ...
      pfam09240
      Location:164 → 255
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:74 → 143
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    6. XM_011247132.4 → XP_011245434.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

      Conserved Domains (2) summary
      pfam09240
      Location:164 → 255
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:74 → 143
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    7. XM_036161418.1 → XP_036017311.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

      Conserved Domains (2) summary
      pfam09240
      Location:164 → 255
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:74 → 140
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    RNA

    1. XR_877658.4 RNA Sequence

    2. XR_003952748.2 RNA Sequence

    3. XR_003952745.2 RNA Sequence

    4. XR_004940112.1 RNA Sequence

    5. XR_003952744.2 RNA Sequence

    6. XR_003952743.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00941.2 GenPept UniProtKB/Swiss-Prot:Q00941

    Gene LinkOut

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

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