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    CSF2RA colony stimulating factor 2 receptor subunit alpha [ Homo sapiens (human) ]

    Gene ID: 1438, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CSF2RAprovided by HGNC
    Official Full Name
    colony stimulating factor 2 receptor subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:2435
    See related
    Ensembl:ENSG00000198223 Ensembl:ENSG00000292357 MIM:306250; MIM:425000; AllianceGenome:HGNC:2435
    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
    GMR; CD116; CSF2R; SMDP4; CDw116; CSF2RX; CSF2RY; GMCSFR; CSF2RAX; CSF2RAY; alphaGMR; GMR-alpha; GMCSFR-alpha; GM-CSF-R-alpha
    Summary
    The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 20.8), appendix (RPKM 7.7) and 14 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CSF2RA in Genome Data Viewer
    Location:
    X;Y
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (1268814..1325218)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (1268814..1325218)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (1116126..1174802)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (1129416..1189240)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1387707..1444111)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (1337707..1394111)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L6-like Neighboring gene hESC enhancers GRCh37_chrX:1324089-1324592, GRCh37_chrY:1274255-1275102 and GRCh37_chrY:1273405-1274254 Neighboring gene cytokine receptor like factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1367406-1367922 and GRCh37_chrY:1317424-1317933 Neighboring gene NANOG hESC enhancer GRCh37_chrY:1330085-1330594 Neighboring gene uncharacterized LOC124905238 Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene interleukin 3 receptor subunit alpha Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:1510270-1510865 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1510866-1511460 and GRCh37_chrY:1460904-1461506 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene solute carrier family 25 member 6

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L6-like Neighboring gene hESC enhancers GRCh37_chrX:1324089-1324592, GRCh37_chrY:1274255-1275102 and GRCh37_chrY:1273405-1274254 Neighboring gene cytokine receptor like factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1367406-1367922 and GRCh37_chrY:1317424-1317933 Neighboring gene NANOG hESC enhancer GRCh37_chrY:1330085-1330594 Neighboring gene uncharacterized LOC124905238 Neighboring gene microRNA 3690 Neighboring gene RNA, 5S ribosomal pseudogene 498 Neighboring gene uncharacterized LOC101928032 Neighboring gene interleukin 3 receptor subunit alpha Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:1510270-1510865 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1510866-1511460 and GRCh37_chrY:1460904-1461506 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene solute carrier family 25 member 6

    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. Activation of JAK2 in human vascular endothelial cells by granulocyte-macrophage colony-stimulating factor. Soldi R, et al. Blood, 1997 Feb 1. PMID 9028317
    2. Crystallization and preliminary X-ray diffraction analysis of the ternary human GM-CSF receptor complex. Hansen G, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2008 Aug 1. PMID 18678938, Free PMC Article
    3. Role of the cytokine environment and cytokine receptor expression on the generation of functionally distinct dendritic cells from human monocytes. Conti L, et al. Eur J Immunol, 2008 Mar. PMID 18236400
    4. Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit. Pelley JL, et al. Exp Hematol, 2007 Oct. PMID 17681666
    5. Constitutive mutants of the GM-CSF receptor reveal multiple pathways leading to myeloid cell survival, proliferation, and granulocyte-macrophage differentiation. Brown AL, et al. Blood, 2004 Jan 15. PMID 14504109

    See all (77) 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. CD116+ fetal precursors migrate to the perinatal lung and give rise to human alveolar macrophages.
      Title: CD116+ fetal precursors migrate to the perinatal lung and give rise to human alveolar macrophages.
    3. miR-532-3p-CSF2RA Axis as a Key Regulator of Vulnerable Atherosclerotic Plaque Formation.
      Title: miR-532-3p-CSF2RA Axis as a Key Regulator of Vulnerable Atherosclerotic Plaque Formation.
    4. Expression of granulocyte macrophage-colony stimulating factor and its receptor in the synovium of osteoarthritis patients is negatively correlated with pain.
      Title: Expression of granulocyte macrophage-colony stimulating factor and its receptor in the synovium of osteoarthritis patients is negatively correlated with pain.
    5. 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.
    6. Missense mutations in CSF2RA gene is associated with Pediatric Crohn's Disease.
      Title: Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
    7. Family-based whole genome analysis of a family with hereditary pulmonary alveolar proteinosis revealed a homozygous deletion that disrupts CSF2RA, CRLF2, and IL3RA gene in the pseudoautosomal region of the X chromosome in the affected child and one of asymptomatic siblings.
      Title: Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption.
    8. lesions from human secondary progressive multiple sclerosis, but not primary progressive multiple sclerosis patients shows extensive recruitment of GM-CSF Ralpha+ myeloid cells
      Title: Targeting the GM-CSF receptor for the treatment of CNS autoimmunity.
    9. Conformational changes in the GM-CSF receptor suggest a molecular mechanism for affinity conversion and receptor signaling.
      Title: Conformational Changes in the GM-CSF Receptor Suggest a Molecular Mechanism for Affinity Conversion and Receptor Signaling.
    10. regulatory molecule causative of aortic dissection and intramural haematoma
      Title: Granulocyte macrophage colony-stimulating factor is required for aortic dissection/intramural haematoma.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    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
    Surfactant metabolism dysfunction, pulmonary, 4
    MedGen: C2677877 OMIM: 300770 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of colony stimulating factor 2 receptor, alpha subunit (CSF2RA) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • MGC3848, MGC4838

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables growth hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide hormone binding IBA
    Inferred from Biological aspect of Ancestor
    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 cell surface receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in granulocyte-macrophage colony-stimulating factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of leukocyte proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    part_of granulocyte macrophage colony-stimulating factor receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of growth hormone receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    granulocyte-macrophage colony-stimulating factor receptor subunit alpha
    Names
    CD116 antigen
    GM-CSF receptor alpha subunit
    alpha-GM-CSF receptor
    colony stimulating factor 2 receptor alpha subunit
    colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
    granulocyte-macrophage colony-stimulating factor 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.

    Genomic

    1. NG_012280.1 RefSeqGene

      Range
      5001..46136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_186

    mRNA and Protein(s)

    1. NM_001161529.2 → NP_001155001.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      See identical proteins and their annotated locations for NP_001155001.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      A7J003, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, P15509, Q14429, Q14430, Q14431, Q16564
      Related
      ENSP00000416437.2, ENSP00000518633.1, ENST00000432318.8, ENST00000711131.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    2. NM_001161530.2 → NP_001155002.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

      See identical proteins and their annotated locations for NP_001155002.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS55359.1
      UniProtKB/Swiss-Prot
      P15509
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    3. NM_001161531.2 → NP_001155003.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor

      See identical proteins and their annotated locations for NP_001155003.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS55360.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000370920.3, ENSP00000518632.1, ENST00000381509.8, ENST00000711220.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    4. NM_001161532.2 → NP_001155004.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform h

      See identical proteins and their annotated locations for NP_001155004.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      UniProtKB/Swiss-Prot
      P15509
      Conserved Domains (1) summary
      pfam09240
      Location:1 → 82
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    5. NM_001379153.1 → NP_001366082.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS55359.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    6. NM_001379154.1 → NP_001366083.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS55359.1
      Related
      ENSP00000512483.1, ENSP00000518638.1, ENST00000498153.7, ENST00000711138.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    7. NM_001379155.1 → NP_001366084.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS55360.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    8. NM_001379156.1 → NP_001366085.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      A7J003, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, P15509, Q14429, Q14430, Q14431, Q16564
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    9. NM_001379158.1 → NP_001366087.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      A7J003, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, P15509, Q14429, Q14430, Q14431, Q16564
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    10. NM_001379159.1 → NP_001366088.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform i precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553, BX901885
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    11. NM_001379160.1 → NP_001366089.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform j precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    12. NM_001379161.1 → NP_001366090.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform k precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553, BX901885
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    13. NM_001379162.1 → NP_001366091.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform l precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553, BX901885
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    14. NM_001379163.1 → NP_001366092.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform l precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553, BX901885
      Related
      ENSP00000520702.1, ENSP00000520930.1, ENST00000718262.1, ENST00000850691.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    15. NM_001379164.1 → NP_001366093.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform m precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553, BX901885
      Related
      ENSP00000520701.1, ENSP00000520929.1, ENST00000718261.1, ENST00000850690.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    16. NM_001379165.1 → NP_001366094.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform m precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553, BX901885
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    17. NM_001379166.1 → NP_001366095.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform n precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    18. NM_001379167.1 → NP_001366096.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35192.1
      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    19. NM_001379168.1 → NP_001366097.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35192.1
      UniProtKB/TrEMBL
      F2Z3C9
      Related
      ENSP00000370911.1, ENSP00000518627.1, ENST00000381500.6, ENST00000711226.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    20. NM_001379169.1 → NP_001366098.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35192.1
      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    21. NM_006140.6 → NP_006131.2  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      See identical proteins and their annotated locations for NP_006131.2

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      A7J003, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, P15509, Q14429, Q14430, Q14431, Q16564
      Related
      ENSP00000370935.3, ENSP00000518637.1, ENST00000381524.8, ENST00000711137.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    22. NM_172245.4 → NP_758448.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor

      See identical proteins and their annotated locations for NP_758448.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35191.1
      UniProtKB/Swiss-Prot
      A7J003, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, P15509, Q14429, Q14430, Q14431, Q16564
      Related
      ENSP00000370940.3, ENSP00000518635.1, ENST00000381529.9, ENST00000711129.1
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    23. NM_172246.4 → NP_758449.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform b precursor

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35190.1
      UniProtKB/Swiss-Prot
      P15509
      Related
      ENSP00000347606.3, ENSP00000518630.1, ENST00000355432.8, ENST00000711223.1
      Conserved Domains (2) summary
      smart00060
      Location:220 → 298
      FN3; Fibronectin type 3 domain
      pfam09240
      Location:121 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    24. NM_172247.3 → NP_758450.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor

      See identical proteins and their annotated locations for NP_758450.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35192.1
      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    25. NM_172249.4 → NP_758452.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform e precursor

      See identical proteins and their annotated locations for NP_758452.1

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Consensus CDS
      CCDS35193.1
      UniProtKB/TrEMBL
      J3JS74
      Related
      ENSP00000348058.2, ENSP00000518629.1, ENST00000355805.7, ENST00000711224.1
      Conserved Domains (1) summary
      pfam09240
      Location:121 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    RNA

    1. NR_027760.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BX649553
      Related
      ENST00000486791.6, ENST00000711225.1

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      1268814..1325218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441851.1 → XP_047297807.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6

      Related
      ENSP00000520699.1, ENST00000718259.1

    2. XM_011546175.3 → XP_011544477.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

      See identical proteins and their annotated locations for XP_011544477.1

      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    3. XM_047441850.1 → XP_047297806.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

    4. XM_011546167.3 → XP_011544469.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_011544469.1

      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    5. XM_011546174.4 → XP_011544476.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

      See identical proteins and their annotated locations for XP_011544476.1

      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    6. XM_047441853.1 → XP_047297809.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    7. XM_047441846.1 → XP_047297802.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    8. XM_047441847.1 → XP_047297803.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    9. XM_047441845.1 → XP_047297801.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    10. XM_047441849.1 → XP_047297805.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

    11. XM_047441848.1 → XP_047297804.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    12. XM_047441852.1 → XP_047297808.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X4

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      1268814..1325218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442716.1 → XP_047298672.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6

      Related
      ENSP00000520927.1, ENST00000850688.1

    2. XM_011545628.3 → XP_011543930.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

      See identical proteins and their annotated locations for XP_011543930.1

      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    3. XM_047442715.1 → XP_047298671.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

    4. XM_011545620.3 → XP_011543922.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

      See identical proteins and their annotated locations for XP_011543922.1

      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    5. XM_011545627.4 → XP_011543929.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

      See identical proteins and their annotated locations for XP_011543929.1

      UniProtKB/TrEMBL
      F2Z3C9
      Conserved Domains (2) summary
      pfam09240
      Location:123 → 215
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
      pfam18611
      Location:35 → 112
      IL3Ra_N; IL-3 receptor alpha chain N-terminal domain

    6. XM_047442718.1 → XP_047298674.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    7. XM_047442711.1 → XP_047298667.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    8. XM_047442712.1 → XP_047298668.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    9. XM_047442710.1 → XP_047298666.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    10. XM_047442714.1 → XP_047298670.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

    11. XM_047442713.1 → XP_047298669.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    12. XM_047442717.1 → XP_047298673.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      1116126..1174802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326521.1 → XP_054182496.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X6

    2. XM_054326525.1 → XP_054182500.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    3. XM_054326520.1 → XP_054182495.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

    4. XM_054326515.1 → XP_054182490.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

    5. XM_054326523.1 → XP_054182498.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    6. XM_054326524.1 → XP_054182499.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    7. XM_054326514.1 → XP_054182489.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    8. XM_054326516.1 → XP_054182491.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    9. XM_054326517.1 → XP_054182492.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    10. XM_054326519.1 → XP_054182494.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

    11. XM_054326518.1 → XP_054182493.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    12. XM_054326522.1 → XP_054182497.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      1129416..1189240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328251.1 → XP_054184226.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    2. XM_054328247.1 → XP_054184222.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

    3. XM_054328242.1 → XP_054184217.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X2

    4. XM_054328249.1 → XP_054184224.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    5. XM_054328250.1 → XP_054184225.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X5

    6. XM_054328241.1 → XP_054184216.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    7. XM_054328243.1 → XP_054184218.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    8. XM_054328244.1 → XP_054184219.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    9. XM_054328246.1 → XP_054184221.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X3

    10. XM_054328245.1 → XP_054184220.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X1

    11. XM_054328248.1 → XP_054184223.1  granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172248.1: Suppressed sequence

      Description
      NM_172248.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15509.1 GenPept UniProtKB/Swiss-Prot:P15509

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