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CSF2RB Gene

protein-coding   GIFtS: 67
GCID: GC22P037309

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


(Previous symbol: IL3RB)
  See CSF2RB-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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Aliases
Colony Stimulating Factor 2 Receptor, Beta, Low-Affinity
(Granulocyte-Macrophage)1 2
     CD1312
IL3RB1 2 3     Colony-Stimulating Factor-2 Receptor, Beta, Low-Affinity2
CDw1312 3     Cytokine Receptor Common Subunit Beta2
IL5RB2 3     GM-CSF/IL-3/IL-5 Receptor Common Beta-Chain2
GM-CSF/IL-3/IL-5 Receptor Common Beta Subunit2 3     Interleukin 3 Receptor/Granulocyte-Macrophage Colony Stimulating Factor 3
Receptor, Beta (High Affinity)2
SMDP52 5     CD131 Antigen3

External Ids:    HGNC: 24361   Entrez Gene: 14392   Ensembl: ENSG000001003687   OMIM: 1389815   UniProtKB: P329273   

Export aliases for CSF2RB gene to outside databases

Previous GC identifers: GC22P033932 GC22P035552 GC22P035561 GC22P035642 GC22P020271


(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 CSF2RB Gene:
The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF.
Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). (provided by
RefSeq, Jul 2008)

GeneCards Summary for CSF2RB Gene:
CSF2RB (colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)) is a protein-coding gene. Diseases associated with CSF2RB include surfactant metabolism dysfunction, pulmonary, 5, and surfactant metabolism dysfunction, pulmonary, 1. GO annotations related to this gene include interleukin-5 receptor activity and receptor activity.

UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927
Function: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating
factor




(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_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CSF2RB gene promoter:
         GR   AML1a   GR-beta   IRF-1   RORalpha1   POU2F1   POU2F1a   Chx10   ARP-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCSF2RB promoter sequence
   Search Chromatin IP Primers for CSF2RB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CSF2RB


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q12.2-q13.1

CSF2RB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CSF2RB gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P037309:  view genomic region     (about GC identifiers)

Start:
37,309,670 bp from pter      End:
37,336,491 bp from pter
Size:
26,822 bases      Orientation:
plus strand

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927 (See protein sequence)
Recommended Name: Cytokine receptor common subunit beta precursor  
Size: 897 amino acids; 97336 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. Interacts with TMEM102; this interaction occurs preferentially in the absence of
CSF2. Interacts with LYN (By similarity)
5 PDB 3D structures from and Proteopedia for CSF2RB:
1C8P (3D)        1EGJ (3D)        1GH7 (3D)        2GYS (3D)        3CXE (3D)    
Secondary accessions: Q5JZI1 Q6ICE0
Alternative splicing: 2 isoforms:  P32927-1   P32927-2   

Explore the universe of human proteins at neXtProt for CSF2RB: NX_P32927

Explore proteomics data for CSF2RB at MOPED

Post-translational modifications: 

  • May be phosphorylated by LYN (By similarity)1
  • Glycosylation2 at Asn58, Asn191, Asn346
  • Modification sites at PhosphoSitePlus

  • See CSF2RB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000386.1  
    ENSEMBL proteins: 
     ENSP00000384053   ENSP00000385271   ENSP00000393585   ENSP00000262825   ENSP00000440003  
    Reactome Protein details: P32927

    CSF2RB Human Recombinant Protein Products:

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    antibodies-online proteins for CSF2RB (4 products) 

     
    antibodies-online peptides for CSF2RB

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    antibodies-online kits for CSF2RB (11 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cytokine receptor common beta subunit
    IL-3 receptor family

    5 InterPro protein domains:
     IPR015321 IL-6_rcpt_alpha-bd
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR011365 IL3_rcpt_beta
     IPR003531 Hempt_rcpt_S_F1_CS

    Graphical View of Domain Structure for InterPro Entry P32927

    ProtoNet protein and cluster: P32927

    1 Blocks protein domain: IPB003531 Short hematopoietin receptor

    UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927
    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 4 subfamily
    Similarity: Contains 2 fibronectin type-III domains


    Find genes that share domains with CSF2RB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: IL3RB_HUMAN, P32927
    Function: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating
    factor

         Genatlas biochemistry entry for CSF2RB:
    colony-stimulating factor 2 (granulocyte,macrophage), interleukin 3,interleukin 5 receptor common subunit beta
    (high affinity),critical for the activation of both the JAK/STAT (JAK2,STAT5) and MAP kinase pathways,involved in
    LYN binding

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS9410898
    GO:0004896cytokine receptor activity ----
    GO:0004912contributes to interleukin-3 receptor activity TAS9410898
    GO:0004914contributes to interleukin-5 receptor activity TAS9410898
    GO:0005515protein binding IPI1495999
         
    Find genes that share ontologies with CSF2RB           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CSF2RB:
     Increased 8N DNA content 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Csf2rb):
     hematopoietic system  homeostasis/metabolism  immune system  respiratory system 

    Find genes that share phenotypes with CSF2RB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CSF2RB: Csf2rbtm1Clsc Csf2rbtm1Mur Csf2rbtm1Cgb

       genOway: Develop your customized and physiologically relevant rodent model for CSF2RB

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    7 qRT-PCR Assays for microRNAs that regulate CSF2RB:
    hsa-miR-365 hsa-miR-576-5p hsa-miR-19b hsa-miR-889 hsa-miR-155 hsa-miR-4282 hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidCSF2RB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CSF2RB

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CSF2RB (NM_000395)
    Sino Biological Human cDNA Clone for CSF2RB
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSF2RB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RB


    (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
    IL3RB_HUMAN, P32927: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS1702217
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030526granulocyte macrophage colony-stimulating factor receptor complex TAS9410898

    Find genes that share ontologies with CSF2RB           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 CSF2RB About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    Glucocorticoid Receptor Signaling0.43
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51
    3Signaling by Interleukins
    Interleukin receptor SHC signaling0.67
    Interleukin-3, 5 and GM-CSF signaling0.59
    Interleukin-2 signaling0.67
    Signaling by Interleukins0.42
    4Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    5p70S6K Signaling
    p70S6K Signaling0.60


    Find genes that share SuperPaths with CSF2RB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CSF2RB (see all 15)
        MSP-RON Signaling
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Glucocorticoid Receptor Signaling

    1 Cell Signaling Technology (CST) Pathway for CSF2RB
        Jak/Stat Pathway

    1 GeneGo (Thomson Reuters) Pathway for CSF2RB
        Immune response IL-3 activation and signaling pathway

    3 BioSystems Pathways for CSF2RB
        IL-5 Signaling Pathway
    Kit Receptor Signaling Pathway
    IL-3 Signaling Pathway


    2 Reactome Pathways for CSF2RB
        Interleukin receptor SHC signaling
    Interleukin-3, 5 and GM-CSF signaling


    3 Kegg Pathways  (Kegg details for CSF2RB):
        Cytokine-cytokine receptor interaction
    Apoptosis
    Jak-STAT signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF2RB: 
              NFKB Signaling Targets in human mouse rat
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CSF2RB

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

    Selected Interacting proteins for CSF2RB (P329271, 2, 3 ENSP000003840534) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHC1P293532, 3, ENSP000004013034MINT-8286845 MINT-8286769 MINT-8286829 MINT-8035467 I2D: score=6 STRING: ENSP00000401303
    PTPN11Q061242, 3, ENSP000003409444MINT-8035452 MINT-8035437 I2D: score=5 STRING: ENSP00000340944
    IL5P051131, 3, ENSP000002314544EBI-1809771,EBI-2435811 I2D: score=1 STRING: ENSP00000231454
    PIK3R1P279862, ENSP000002743354MINT-8286845 MINT-8286707 MINT-8286769 MINT-8286829 STRING: ENSP00000274335
    JAK2O606741, 2, 3, ENSP000003710674EBI-1809771,EBI-518647 MINT-8286707 I2D: score=5 STRING: ENSP00000371067
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS1702217
    GO:0007585respiratory gaseous exchange TAS9410898
    GO:0019221cytokine-mediated signaling pathway ----
    GO:0032496response to lipopolysaccharide IEA--
    GO:0036016cellular response to interleukin-3 TAS9410898

    Find genes that share ontologies with CSF2RB           About GenesLikeMe



    (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
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    Browse Tocris compounds for CSF2RB (IL3RB)

    2 DrugBank Compounds for CSF2RB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    SargramostimColony-stimulating factor (see all 5)83869-56-1targetagonist17139284 1424804 17016423
    Alpha-D-Mannose-- 3458-28-4target----



    (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 CSF2RB gene: 
    NM_000395.2  

    Unigene Cluster for CSF2RB:

    Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
    Hs.592192  [show with all ESTs]
    Unigene Representative Sequence: NM_000395
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403662(uc003aqa.4) ENST00000406230 ENST00000421539 ENST00000262825(uc003aqc.4)
    ENST00000536485
    miRNA
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    hsa-miR-365 hsa-miR-576-5p hsa-miR-19b hsa-miR-889 hsa-miR-155 hsa-miR-4282 hsa-miR-19a
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      QuantiFast Probe-based Assays in human, mouse, rat CSF2RB

    Additional mRNA sequence: 

    AK302993.1 BC070085.1 CR456428.1 M59941.1 

    5 DOTS entries:

    DT.99935002  DT.100744002  DT.101956029  DT.100687954  DT.453853 

    Selected AceView cDNA sequences (see all 112):

    NM_000395 H55302 BX450991 AI718599 CR604461 AA761543 AI379138 C01377 
    CA428322 AU185738 BU617730 M59941 AA279147 AI523112 CR456428 CA448651 
    CA306570 AA960845 BC070085 AA847136 AA768316 BF002507 CD608381 BG002017 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CSF2RB    About this scheme

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


    ECgene alternative splicing isoforms for CSF2RB

    (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)
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    CSF2RB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCTGAAGT
    CSF2RB Expression
    About this image


    CSF2RB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Granulocytes Peripheral Blood
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Tonsil (Hematopoietic System)
    CSF2RB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CSF2RB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592192
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CSF2RB: 
              NFKB Signaling Targets in human mouse rat
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RB

    (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)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for CSF2RB gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Csf2rb5
    Csf2rb21
    colony stimulating factor 2 receptor, beta, low-affinity more5
    colony stimulating factor 2 receptor, beta 2, low-affinity more1
    69.84(n)1
    57.57(a)1
      15 (37.36 cM)5
    129841  NM_007781.21  NP_031807.11 
     783259905 
    chicken
    (Gallus gallus)
    Aves CSF2RB1 colony stimulating factor 2 receptor, beta, low-affinity more 49.44(n)
    37.68(a)
      771315  XM_004937773.1  XP_004937830.1 
    lizard
    (Anolis carolinensis)
    Reptilia CSF2RB6
    colony stimulating factor 2 receptor, beta, low-af...
    25(a)
    1 ↔ 1
    5(22624398-22652867)
    zebrafish
    (Danio rerio)
    Actinopterygii csf2rb6
    colony stimulating factor 2 receptor, beta, low-af...
    21(a)
    1 ↔ 1
    3(24609384-24629055) ENSDARG00000076586


    ENSEMBL Gene Tree for CSF2RB (if available)
    TreeFam Gene Tree for CSF2RB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CSF2RB gene

    Find genes that share paralogs with CSF2RB           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CSF2RB
    PGOHUM00000259706


    (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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    Selected SNPs for CSF2RB (see all 873)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs126284951,2
    C,H--21224716(+) ATATAC/TGAGTT 1 -- us2k15Minor allele frequency- T:0.17NA CSA WA EA 362
    rs1434983721,2
    --21224771(+) CATCTA/GTAAGG 1 -- us2k10--------
    rs1887161981,2
    --21224834(+) CAGCCA/GAAGGT 1 -- us2k10--------
    rs738839731,2
    C--21224845(+) CTGCTC/TACAGC 1 -- us2k13Minor allele frequency- T:0.06WA NA 240
    rs169974921,2
    C,F--21224870(+) CCTGGT/CCATTA 1 -- us2k16Minor allele frequency- C:0.05NA WA 380
    rs1915398111,2
    --21224930(+) AGATCA/GTCAAT 1 -- us2k10--------
    rs1821655581,2
    --21224959(+) ACATAA/CCACTG 1 -- us2k10--------
    rs1872042801,2
    --21224966(+) ACTGAA/CGGAAA 1 -- us2k10--------
    rs1145367761,2
    C,F--21225104(+) CTCTAT/CGATGA 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1151537941,2
    C,F--21225212(+) GTCTCG/TGGTTC 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for CSF2RB (37309670 - 37336491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CSF2RB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915010CNV Loss21882294
    dgv1405e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CSF2RB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CSF2RB
    DNA2.0 Custom Variant and Variant Library Synthesis for CSF2RB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138981   
    OMIM disorders: 614370  
    UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927
  • Pulmonary surfactant metabolism dysfunction 5 (SMDP5) [MIM:614370]: 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

  • 3 diseases for CSF2RB:    
    About MalaCards
    surfactant metabolism dysfunction, pulmonary, 5    surfactant metabolism dysfunction, pulmonary, 1    megakaryocytic leukemia

    1 disease from the University of Copenhagen DISEASES database for CSF2RB:
    Pulmonary alveolar proteinosis

    Find genes that share disorders with CSF2RB           About GenesLikeMe

    Genetic Association Database (GAD): CSF2RB
    Human Genome Epidemiology (HuGE) Navigator: CSF2RB (14 documents)

    Export disorders for CSF2RB 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 CSF2RB gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with CSF2RB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. An improved resolution structure of the human beta common receptor involved in IL-3, IL-5 and GM-CSF signalling which gives better definition of the high-affinity binding epitope. (PubMed id 16754968)1, 2, 9 Carr P.D.... Young I.G. (Acta Crystallogr. F 2006)
    3. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. (PubMed id 22138694)1, 4 Lin Z....Gu J. (Nat. Genet. 2012)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (PubMed id 19065143)1, 4 Moskvina V....O'Donovan M.C. (Mol. Psychiatry 2009)
    6. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    7. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PubMed id 18804346)1, 4 Edwards T.L....Chen X. (Schizophr. Res. 2008)
    8. CBAP interacts with the un-liganded common beta-subunit of the GM- CSF/IL-3/IL-5 receptor and induces apoptosis via mitochondrial dysfunction. (PubMed id 17828305)1, 2 Kao C.J....Yen J.J. (Oncogene 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. Polymorphisms in eosinophil pathway genes, asthma and atopy. (PubMed id 17362254)1, 4 Kabesch M....Nickel R. (Allergy 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 1439 HGNC: 2436 AceView: CSF2RB Ensembl:ENSG00000100368 euGenes: HUgn1439
    ECgene: CSF2RB Kegg: 1439 H-InvDB: CSF2RB

    (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 CSF2RB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSF2RB 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 CSF2RB gene:
    Search GeneIP for patents involving CSF2RB

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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