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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CSF2RB Gene

protein-coding   GIFtS: 66
GCID: GC22P037309

colony stimulating factor 2 receptor, beta, low-affinity...


(Previous symbol: IL3RB)
 Explore 12 diseases affiliated with
CSF2RB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CSF2RB    

Aliases
for CSF2RB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Colony Stimulating Factor 2 Receptor, Beta, Low-Affinity
(Granulocyte-Macrophage)1 2
     SMDP52
IL3RB1 2 3     Colony-Stimulating Factor-2 Receptor, Beta, Low-Affinity2
IL5RB1 2 3     Cytokine Receptor Common Subunit Beta2
CD1311 2     GM-CSF/IL-3/IL-5 Receptor Common Beta-Chain2
CDw1312 3     Interleukin 3 Receptor/Granulocyte-Macrophage Colony Stimulating Factor 3
Receptor, Beta (High Affinity)2
GM-CSF/IL-3/IL-5 Receptor Common Beta Subunit2 3     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


Summaries
for CSF2RB gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CSF2RB:
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)

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




Genomic Views
for CSF2RB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences 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 plasmid: CSF2RB promoter sequence
   Search SABiosciences Chromatin IP Primers for CSF2RB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CSF2RB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Membrane; Single-pass type I membrane protein
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

Post-translational modifications:

  • May be phosphorylated by LYN (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P32927

    • CSF2RB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000386.1  
    ENSEMBL proteins: 
     ENSP00000384053   ENSP00000385271   ENSP00000393585   ENSP00000262825   ENSP00000440003  
    Reactome Protein details: P32927
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for CSF2RB (Common beta Chain)
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    Novus Biologicals CSF2RB Proteins
    Novus Biologicals CSF2RB Lysate
    Sino Biological Recombinant Protein for CSF2RB
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    CSF2RB for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CSF2RB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CSF2RB for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR015321 IL6_recept-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 family: 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


    Function
    for CSF2RB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CSF2RB
    7 QIAGEN miScript miRNA 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 plasmid: CSF2RB 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CSF2RB

    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CSF2RB

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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 IPI--


    CSF2RB for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for CSF2RB: Csf2rbtm1Clsc Csf2rbtm1Mur Csf2rbtm1Cgb
         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Csf2rb):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  respiratory system 

    CSF2RB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CSF2RB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Interleukin receptor SHC signaling
    		Interleukin receptor SHC signaling1.00
    		Interleukin-3, 5 and GM-CSF signaling0.57
    		Interleukin-2 signaling0.67
    		The receptor is activated0.29
    		Phosphorylated SHC1 recruits GRB2:GAB20.61
    		Signaling by Interleukins0.25
    		SHC1 mediates cytokine-induced phosphorylation of GAB20.61
    2TGF-Beta Pathway
    		TGF-Beta Pathway1.00
    		JAK-STAT Pathway0.57
    		MAPK Family Pathway0.60
    		JNK Pathway0.50
    3PEDF Induced Signaling
    		STAT3 Pathway0.47
    		Glucocorticoid Receptor Signaling0.27
    		PGC1Alpha Pathway0.33
    		Cytokine-cytokine receptor interaction0.26
    4Akt Signaling
    		Akt Signaling1.00
    		Tec Kinases Signaling0.55
    		p38 Signaling0.60
    5Immune response_IL-2 activation and signaling pathway
    		Immune response IL-3 activation and signaling pathway0.41
    		Immune response_IL-3 activation and signaling pathway0.41

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CSF2RB
        Immune response IL-3 activation and signaling pathway

    5/15 Downloadable PowerPoint Slides of QIAGEN 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-3 Signaling Pathway
    IL-5 Signaling Pathway
    Kit Receptor Signaling Pathway

    5/9        Reactome Pathways for CSF2RB (see all 9)
        SHC1 mediates cytokine-induced phosphorylation of GAB2
    Interleukin receptor SHC signaling
    Interleukin-2 signaling
    Phosphorylated SHC1 recruits GRB2:GAB2
    Cytokine Signaling in Immune system


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


    CSF2RB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSF2RB

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

    5/67 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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS1702217
    GO:0007585respiratory gaseous exchange TAS9410898
    GO:0036016cellular response to interleukin-3 TAS9410898
    GO:0038043interleukin-5-mediated signaling pathway TAS9410898
    GO:0038156interleukin-3-mediated signaling pathway TAS9410898


    CSF2RB for ontologies           About GeneDecksing



    Drugs & Compounds
    for CSF2RB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CSF2RB

    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----

    Search CenterWatch for drugs/clinical trials and news about CSF2RB / IL3RB 

    Transcripts
    for CSF2RB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    7 QIAGEN miScript miRNA 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 plasmid: CSF2RB 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    5 DOTS entries:

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

    24/112 AceView cDNA sequences (see all 112):

    AA761543 CA428322 AU185738 BC070085 H55302 AA960845 CA448651 AA768316 
    AI379138 CA306570 CR604461 C01377 BX450991 CR456428 NM_000395 BF002507 
    AA279147 AI523112 AA847136 AI718599 M59941 BU617730 BG571722 CA406713 

    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

    Expression
    for CSF2RB gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CSF2RB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCTGAAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CSF2RB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CSF2RB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CSF2RB

    SOURCE GeneReport for Unigene cluster: Hs.592192
        SABiosciences Expression via Pathway-Focused 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

    Primer
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    In Situ
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    Orthologs
    for CSF2RB gene

    (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
    This gene was present in the common ancestor of chordates.

    Orthologs for CSF2RB gene from 4/10 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 48.8(n)
    36.7(a)    		   771315  XM_001234608.2  XP_001234609.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CSF2RB6
    		 --
    		 32(a)
    		 1 ↔ 1
    		 5(22632953-22645088)
    zebrafish
    (Danio rerio)    		 Actinopterygii csf2rb6
    		 colony stimulating factor 2 receptor, beta, low-af...
    		 20(a)
    		 1 ↔ 1
    		 3(24609384-24623449)


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

    Paralogs
    for CSF2RB gene

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

    CSF2RB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CSF2RB
    PGOHUM00000259706


    Genomic Variants
    for CSF2RB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/666 NCBI SNPs in CSF2RB are shown (see all 666)     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,--37307711(+) ATATAC/TGAGTT 1 -- us2k15Minor allele frequency- T:0.17NA CSA WA EA 362
    rs1434983721,2
    		--37307766(+) CATCTA/GTAAGG 1 -- us2k10--------
    rs1887161981,2
    		--37307829(+) CAGCCA/GAAGGT 1 -- us2k10--------
    rs738839731,2
    		C,--37307840(+) CTGCTC/TACAGC 1 -- us2k13Minor allele frequency- T:0.06WA NA 240
    rs169974921,2
    		C,F,--37307865(+) CCTGGT/CCATTA 1 -- us2k16Minor allele frequency- C:0.05NA WA 380
    rs1915398111,2
    		--37307925(+) AGATCA/GTCAAT 1 -- us2k10--------
    rs1821655581,2
    		--37307954(+) ACATAA/CCACTG 1 -- us2k10--------
    rs1872042801,2
    		--37307961(+) ACTGAA/CGGAAA 1 -- us2k10--------
    rs1145367761,2
    		C,F,--37308099(+) CTCTAT/CGATGA 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1151537941,2
    		C,F,--37308207(+) GTCTCG/TGGTTC 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for CSF2RB (37309670 - 37336491 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CSF2RB
         1 CNV: 4127
    Human Gene Mutation Database (HGMD): CSF2RB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSF2RB
    DNA2.0 Custom Variant and Variant Library Synthesis for CSF2RB

    Disorders / Diseases
    for CSF2RB gene

    (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.)
    About This Section
    CSF2RB for disorders           About GeneDecksing

    OMIM gene information: 138981    OMIM disorders: --

    UniProtKB/Swiss-Prot: IL3RB_HUMAN, P32927
  • Defects in CSF2RB are the cause of pulmonary surfactant metabolism dysfunction type 5 (SMDP5) [MIM:614370].
    • SMDP5 is 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

    12 diseases for CSF2RB:    About MalaCards
    pulmonary alveolar proteinosis    megakaryocytic leukemia    herpes simplex    cblc
    rubella    atopy    cervical cancer    cervicitis
    schizophrenia    influenza    asthma    leukemia

    1 disease from the University of Copenhagen DISEASES database for CSF2RB:
    Pulmonary alveolar proteinosis
    Human Genome Epidemiology (HuGE) Navigator: CSF2RB (14 documents)

    Export disorders for CSF2RB gene to outside databases

    Publications
    for CSF2RB gene

    (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)
    About This Section

    PubMed articles for CSF2RB gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with CSF2RB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2006)
    2. 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. (2008)
    3. 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. (2008)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. Structure of the complete extracellular domain of the common beta subunit of the human GM-CSF, IL-3, and IL-5 receptors reveals a novel dimer configuration. (PubMed id 11207369)1, 2 Carr P.D.... Young I.G. (2001)
    6. Structure of the activation domain of the GM-CSF/IL-3/IL-5 receptor common beta-chain bound to an antagonist. (PubMed id 10753826)1, 2 Rossjohn J.... Bagley C.J. (2000)
    7. The solution structure of the cytokine-binding domain of the common beta-chain of the receptors for granulocyte-macrophage colony- stimulating factor, interleukin-3 and interleukin-5. (PubMed id 10736232)1, 2 Mulhern T.D.... Bagley C.J. (2000)
    8. Human pulmonary alveolar proteinosis associated with a defect in GM- CSF/IL-3/IL-5 receptor common beta chain expression. (PubMed id 9410898)1, 2 Dirksen U.... Burdach S. (1997)
    9. Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region. (PubMed id 8213838)1, 3 Milatovich A....Francke U. (1993)
    10. Localization of the human GM-CSF receptor beta chain gene (CSF2RB) to chromosome 22q12.2-->q13.1. (PubMed id 1424804)1, 7 Shen Y....Gough N.M. (1992)

    External Searches for CSF2RB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
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    Genome Databases showing CSF2RB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1439 HGNC: 2436 AceView: CSF2RB Ensembl:ENSG00000100368 euGenes: HUgn1439
    ECgene: CSF2RB Kegg: 1439 H-InvDB: CSF2RB

    Other Databases showing CSF2RB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CSF2RB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CSF2RB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CSF2RB Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CSF2RB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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