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CSF2RA Gene

protein-coding   GIFtS: 68
GCID: GC0XP001347

Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity...


(Previous symbol: CSF2R)
  See CSF2RA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity
(Granulocyte-Macrophage)1 2
     CSF2RAY2
CSF2R1 2 3     CSF2RX2
CDw1162 3     GMCSFR2
CSF2RY2 3     GMR2
GM-CSF-R-alpha2 3     SMDP42
GMCSFR-alpha2 3     Colony Stimulating Factor 2 Receptor Alpha Subunit2
GMR-alpha2 3     GM-CSF Receptor Alpha Subunit2
CD116 Antigen2 3     Granulocyte-Macrophage Colony-Stimulating Factor Receptor Alpha Chain2
CD1162     Granulocyte-Macrophage Colony-Stimulating Factor Receptor Subunit Alpha2
CSF2RAX2     

External Ids:    HGNC: 24351   Entrez Gene: 14382   Ensembl: ENSG000001982237   OMIM: 306250,4250005   UniProtKB: P155093   
ORGUL members:         

Export aliases for CSF2RA gene to outside databases

Previous GC identifers: GC00U990072 GC0YU900008 GC0YM001355 GC0XM001355


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CSF2RA Gene:
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)

GeneCards Summary for CSF2RA Gene:
CSF2RA (colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)) is a protein-coding gene. Diseases associated with CSF2RA include surfactant metabolism dysfunction, pulmonary, 4, and csf2ra-related pulmonary surfactant metabolism dysfunction. GO annotations related to this gene include cytokine receptor activity and receptor activity. An important paralog of this gene is IL3RA.

UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509
Function: Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that
results in the proliferation, differentiation, and functional activation of hematopoietic cells

Gene Wiki entry for CSF2RA (Granulocyte macrophage colony-stimulating factor receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_187358.1  NC_000024.9  NT_167201.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSF2RA gene promoter:
         Max1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSF2RA promoter sequence
   Search Chromatin IP Primers for CSF2RA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF2RA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.32 and Yp11.3   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.32 and Yp11.3

CSF2RA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF2RA gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP001347:  view genomic region     (about GC identifiers)

Start:
1,387,693 bp from pter      End:
1,429,274 bp from pter
Size:
41,582 bases      Orientation:
plus strand

1 alternative location:
ChrY+ 1,337,693-1,378,828     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509 (See protein sequence)
Recommended Name: Granulocyte-macrophage colony-stimulating factor receptor subunit alpha precursor  
Size: 400 amino acids; 46207 Da
Subunit: Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF
receptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, two
beta, and two ligand subunits
Miscellaneous: The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y
chromosomes
Sequence caution: Sequence=AAA60962.1; Type=Miscellaneous discrepancy;
1 PDB 3D structure from and Proteopedia for CSF2RA:
3CXE (3D)    
Secondary accessions: A7J003 A8KAM1 B4DW68 J3JS76 J3JS77 O00207 Q14429 Q14430 Q14431 Q16564
Alternative splicing: 8 isoforms:  P15509-1   P15509-2   P15509-3   P15509-4   P15509-5   P15509-6   P15509-7   P15509-8   

Explore the universe of human proteins at neXtProt for CSF2RA: NX_P15509

Explore proteomics data for CSF2RA at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn46, Asn54, Asn99, Asn123, Asn135, Asn182, Asn195, Asn223, Asn229, Asn272,
                                 Asn305
  • Modification sites at PhosphoSitePlus

  • See CSF2RA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (9 alternative transcripts): 
    NP_001155001.1  NP_001155002.1  NP_001155003.1  NP_001155004.1  NP_006131.2  NP_758448.1  NP_758449.1  NP_758450.1  
    NP_758452.1  

    ENSEMBL proteins: 
     ENSP00000370940   ENSP00000370935   ENSP00000410667   ENSP00000397452   ENSP00000370920  
     ENSP00000476684   ENSP00000348058   ENSP00000436825   ENSP00000347606   ENSP00000370911  
     ENSP00000416437   ENSP00000394227   ENSP00000354836   ENSP00000440491  
    Reactome Protein details: P15509

    CSF2RA Human Recombinant Protein Products:

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    Novus Biologicals CSF2RA Proteins
    Novus Biologicals CSF2RA Lysates
    Sino Biological Recombinant Protein for CSF2RA
    Sino Biological Cell Lysate for CSF2RA
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CSF2RA 

    CSF2RA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CSF2RA
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    Novus Biologicals CSF2RA Antibodies
    Abcam antibodies for CSF2RA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CSF2RA
    LSBio Antibodies in human, mouse, rat for CSF2RA

    CSF2RA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CSF2RA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CSF2RA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    PAR1: Pseudoautosomal regions / PAR1

    IUPHAR Guide to PHARMACOLOGY protein family classification: GM-CSF receptor, alpha subunit
    IL-3 receptor family

    4 InterPro protein domains:
     IPR015321 IL-6_rcpt_alpha-bd
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003532 Short_hematopoietin_rcpt_2_CS

    Graphical View of Domain Structure for InterPro Entry P15509

    ProtoNet protein and cluster: P15509

    1 Blocks protein domain: IPB003532 Short hematopoietin receptor

    UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 5 subfamily
    Similarity: Contains 1 fibronectin type-III domain


    Find genes that share domains with CSF2RA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSF2R_HUMAN, P15509
    Function: Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that
    results in the proliferation, differentiation, and functional activation of hematopoietic cells

         Genatlas biochemistry entry for CSF2RA:
    colony-stimulating factor (CSF2) receptor,X-linked (granulocyte macrophage) directly intervening in the activation
    of JAK2 and STAT5 (JAK/STAT pathway)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS1358805
    GO:0004896cytokine receptor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with CSF2RA           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CSF2RA
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CSF2RA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CSF2RA

    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CSF2RA

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 9): CSF2RA (NM_006140)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CSF2RA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF2RA

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CSF2R_HUMAN, P15509: Cell membrane; Single-pass type I membrane protein
    CSF2R_HUMAN, P15509: Isoform 3: Secreted (Probable)
    CSF2R_HUMAN, P15509: Isoform 4: Secreted (Probable)
    CSF2R_HUMAN, P15509: Isoform 6: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS2555171
    GO:0016020membrane ----

    Find genes that share ontologies with CSF2RA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CSF2RA About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Signaling by Interleukins
    Interleukin receptor SHC signaling0.67
    Interleukin-3, 5 and GM-CSF signaling0.59
    Interleukin-2 signaling0.67
    Signaling by Interleukins0.42
    3Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    4Interferon Signaling
    Cytokine Signaling in Immune system0.59
    5PAK Pathway
    Antioxidant Action of Vitamin-C0.56


    Find genes that share SuperPaths with CSF2RA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF2RA (see all 6)
        STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling
    Akt Signaling


    2 Reactome Pathways for CSF2RA
        Interleukin receptor SHC signaling
    Interleukin-3, 5 and GM-CSF signaling


    4 Kegg Pathways  (Kegg details for CSF2RA):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway
    Hematopoietic cell lineage
    Pathways in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF2RA: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CSF2RA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CSF2RA (P155092, 3 ENSP000003709354) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279862, 3, ENSP000002743354MINT-8111763 I2D: score=5 STRING: ENSP00000274335
    CHUKO151113, ENSP000003594244I2D: score=2 STRING: ENSP00000359424
    CSF2RBP329273, ENSP000003840534I2D: score=2 STRING: ENSP00000384053
    RPSAP088653, ENSP000003460674I2D: score=1 STRING: ENSP00000346067
    CSF2P041413, ENSP000002968714I2D: score=3 STRING: ENSP00000296871
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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CSF2RA (CSF2R)

    1 DrugBank Compound for CSF2RA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    SargramostimColony-stimulating factor (see all 5)83869-56-1targetagonist17090651 11752352 16638185 16760463 17522711

    1 IUPHAR Ligand for CSF2RA (GM-CSF receptor, alpha subunit)    About this table
    LigandTypeActionAffinityPubmed IDs
    GM-CSF
    AgonistAgonist--

    4 Novoseek inferred chemical compound relationships for CSF2RA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gp 130 40.8 2 11306493 (1), 9675079 (1)
    tyrosine 38.1 5 8298195 (2), 11698308 (1), 9389692 (1)
    serine 5.53 2 1715577 (1)
    glucose 0 3 7849318 (1), 7696970 (1)



    Find genes that share compounds with CSF2RA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CSF2RA gene (10 alternative transcripts): 
    NM_001161529.1  NM_001161530.1  NM_001161531.1  NM_001161532.1  NM_006140.4  NM_172245.2  NM_172246.2  NM_172247.2  
    NM_172249.2  NM_172248.1  

    Unigene Cluster for CSF2RA:

    Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
    Hs.520937  [show with all ESTs]
    Unigene Representative Sequence: NM_001161529
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000381529 ENST00000381524(uc004cpn.2 uc010ncu.2) ENST00000493312
    ENST00000412290 ENST00000419094 ENST00000381509(uc011mhb.1) ENST00000494969
    ENST00000481245 ENST00000355805 ENST00000486791 ENST00000355432 ENST00000381500
    ENST00000477940 ENST00000478256 ENST00000475259 ENST00000491683 ENST00000498153
    ENST00000432318(uc010nct.2 uc004cpo.2)
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF2RA
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CSF2RA
      QuantiFast Probe-based Assays in human, mouse, rat CSF2RA

    Additional mRNA sequence: 

    AK293086.1 AK301395.1 AK309630.1 AL833597.1 BC002635.1 BC071835.1 DQ841258.1 L29348.1 
    L29349.1 M64445.1 M73832.1 NR_027760.1 U93096.1 X17648.1 X54935.1 

    Selected DOTS entries (see all 28):

    DT.454155  DT.86853517  DT.100819891  DT.120651231  DT.100819887  DT.100819889  DT.100023263  DT.100819894 
    DT.91680973  DT.91903275  DT.120651257  DT.121277687  DT.40105950  DT.92424763  DT.95162396  DT.95201746 
    DT.120651247  DT.95162394  DT.100800368  DT.100819897  DT.120651235  DT.121277672  DT.121277688  DT.86837287 

    Selected AceView cDNA sequences (see all 77):

    BX459288 L29349 NM_172245 X54935 BX397893 BX324688 AL542941 BG477733 
    L29348 BX336675 BX336385 M73832 NM_006140 CD366453 NM_172247 NM_172249 
    BE391340 X17648 BC002635 NM_172246 U93096 CA426022 NM_172248 AL833597 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CSF2RA (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ·
    SP1:                          -     -                       -                                   -                       -                       -               
    SP2:                                -     -                 -                                   -                       -                                       
    SP3:                                -     -                 -                                   -                       -                       -               
    SP4:                          -     -     -                 -                                   -                       -                       -               
    SP5:                                -     -                 -                                   -                       -     -                 -               

    ExUns: 16c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CSF2RA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CSF2RA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CSF2RA Expression
    About this image


    CSF2RA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Adipose-derived stem cells (StemGenex)
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Mesenchymal Stem Cells
             Adipose-derived stem cells (StemGenex)
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    CSF2RA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSF2RA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520937
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF2RA: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CSF2RA gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csf2ra1 colony stimulating factor 2 receptor, alpha, low-affinity more 48.31(n)
    36.8(a)
      12982  NM_009970.2  NP_034100.2 
    chicken
    (Gallus gallus)
    Aves CSF2RA1 colony stimulating factor 2 receptor, alpha, low-affinity more 48.39(n)
    35.96(a)
      418667  XM_416863.3  XP_416863.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017322171 interleukin-5 receptor subunit alpha-like 45.63(n)
    28.75(a)
      101732217  XM_004919901.1  XP_004919958.1 


    ENSEMBL Gene Tree for CSF2RA (if available)
    TreeFam Gene Tree for CSF2RA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSF2RA gene
    IL3RA2  
    1 SIMAP similar gene for CSF2RA using alignment to 6 protein entries:     CSF2R_HUMAN (see all proteins):
    IL3RA

    Find genes that share paralogs with CSF2RA           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    1 SNPs for CSF2RA    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0585074
    Pulmonary surfactant metabolism dysfunction 4 (SMDP4)4--see VAR_0585072 G R mis40--------

    HapMap Linkage Disequilibrium report for CSF2RA (1387693 - 1429274 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CSF2RA (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739661CNV Deletion23290073
    esv2739646CNV Deletion23290073
    esv2739659CNV Deletion23290073
    esv2739654CNV Deletion23290073
    esv2670322CNV Deletion23128226
    esv2739658CNV Deletion23290073
    dgv1353e201CNV Deletion23290073
    esv2739657CNV Deletion23290073
    esv2739664CNV Deletion23290073
    esv2739655CNV Deletion23290073

    Human Gene Mutation Database (HGMD): CSF2RA
    Locus Specific Mutation Databases (LSDB): CSF2RA

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CSF2RA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 306250,425000    OMIM disorders: --

    UniProtKB/Swiss-Prot: CSF2R_HUMAN, P15509
  • Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]: A rare lung disorder due to impaired
    surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive
    using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components.
    Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 6 diseases for CSF2RA:    
    About MalaCards
    surfactant metabolism dysfunction, pulmonary, 4    csf2ra-related pulmonary surfactant metabolism dysfunction    surfactant metabolism dysfunction, pulmonary, 1    acute basophilic leukemia
    pulmonary surfactant metabolism dysfunction    aplastic anemia

    2 diseases from the University of Copenhagen DISEASES database for CSF2RA:
    Pulmonary alveolar proteinosis     Leukemia

    Find genes that share disorders with CSF2RA           About GenesLikeMe

    7 Novoseek inferred disease relationships for CSF2RA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 40.2 5 7934175 (2), 9332306 (1), 11238105 (1), 8418381 (1)
    myeloid leukemia chronic 23.8 1 9131005 (1)
    leukemia lymphocytic chronic 10.8 1 8695795 (1)
    cancer 3.13 1 15497703 (1)
    necrosis 0 3 9328452 (1), 9389700 (1)
    tumors 0 5 7849318 (1), 9328452 (1), 9389700 (1)
    prostate cancer 0 1 8687098 (1)

    Genetic Association Database (GAD): CSF2RA
    Human Genome Epidemiology (HuGE) Navigator: CSF2RA (3 documents)

    Export disorders for CSF2RA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CSF2RA gene, integrated from 10 sources (see all 161):
    (articles sorted by number of sources associating them with CSF2RA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. (PubMed id 17522711)1, 4, 7 Lencz T....Malhotra A.K. (Mol. Psychiatry 2007)
    2. A functional isoform of the human granulocyte/macrophage colony- stimulating factor receptor has an unusual cytoplasmic domain. (PubMed id 1715577)1, 2, 9 Crosier K.E.... Sieff C.A. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    3. Association between interleukin-3 receptor alpha polymorphism and schizophrenia in the Chinese population. (PubMed id 18547720)1, 4, 9 Sun S....Zhang X.Y. (Neurosci. Lett. 2008)
    4. Discovery and characterization of a novel splice variant of the GM- CSF receptor alpha subunit. (PubMed id 17681666)1, 2, 9 Pelley J.L.... Brown C.B. (Exp. Hematol. 2007)
    5. The alpha subunit of the granulocyte-macrophage colony-stimulating factor receptor interacts with c-Kit and inhibits c-Kit signaling. (PubMed id 16760463)1, 7, 9 Chen J....Golde D.W. (J. Biol. Chem. 2006)
    6. Identification and molecular cloning of a soluble human granulocyte- macrophage colony-stimulating factor receptor. (PubMed id 1832774)1, 2, 9 Raines M.A.... Golde D.W. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    7. A family-based study of the IL3RA gene on susceptibility to schizophrenia in a Chinese Han population. (PubMed id 19281803)1, 4, 9 Sun S....Zhang X.Y. (Brain Res. 2009)
    8. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. (PubMed id 18955567)1, 2 Martinez-Moczygemba M.... Huston D.P. (J. Exp. Med. 2008)
    9. The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation. (PubMed id 18692472)1, 2 Hansen G.... Parker M.W. (Cell 2008)
    10. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. (PubMed id 18955570)1, 2 Suzuki T.... Trapnell B.C. (J. Exp. Med. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1438 HGNC: 2435 AceView: CSF2RA.1 Ensembl:ENSG00000198223 euGenes: HUgn1438
    ECgene: CSF2RA Kegg: 1438 H-InvDB: CSF2RA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CSF2RA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSF2RA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CSF2RA gene:
    Search GeneIP for patents involving CSF2RA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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