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Aliases for CSF2RB Gene

Aliases for CSF2RB Gene

  • Colony Stimulating Factor 2 Receptor Beta Common Subunit 2 3 5
  • Colony Stimulating Factor 2 Receptor, Beta, Low-Affinity (Granulocyte-Macrophage) 2 3
  • GM-CSF/IL-3/IL-5 Receptor Common Beta Subunit 3 4
  • Beta Common Cytokine Receptor 2 3
  • Beta-GM-CSF Receptor 2 3
  • CDw131 3 4
  • IL3RB 3 4
  • IL5RB 3 4
  • Interleukin 3 Receptor/Granulocyte-Macrophage Colony Stimulating Factor 3 Receptor, Beta (High Affinity) 3
  • Colony-Stimulating Factor-2 Receptor, Beta, Low-Affinity 3
  • GM-CSF/IL-3/IL-5 Receptor Common Beta-Chain 3
  • Cytokine Receptor Common Subunit Beta 3
  • CD131 Antigen 4
  • BetaGMR 3
  • CD131 3
  • SMDP5 3

External Ids for CSF2RB Gene

Previous HGNC Symbols for CSF2RB Gene

  • IL3RB

Previous GeneCards Identifiers for CSF2RB Gene

  • GC22P033932
  • GC22P035552
  • GC22P035561
  • GC22P035642
  • GC22P037309
  • GC22P020271

Summaries for CSF2RB Gene

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 Common Subunit) is a Protein Coding gene. Diseases associated with CSF2RB include Surfactant Metabolism Dysfunction, Pulmonary, 5 and Hereditary Pulmonary Alveolar Proteinosis. Among its related pathways are Akt Signaling and G beta-gamma signalling through PI3Kgamma. Gene Ontology (GO) annotations related to this gene include interleukin-3 receptor activity.

UniProtKB/Swiss-Prot for CSF2RB Gene

  • High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor.

Additional gene information for CSF2RB Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSF2RB Gene

Genomics for CSF2RB Gene

GeneHancer (GH) Regulatory Elements for CSF2RB Gene

Promoters and enhancers for CSF2RB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J036911 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 665.4 -0.1 -69 3.5 HDGF ZSCAN4 MAX ZMYM3 POLR2A EED ZNF143 ZFP91 ETV6 ATF7 CSF2RB NCF4 CYTH4 NCF4-AS1 RAC2 LOC105373022
GH22J036920 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 650.4 +8.3 8255 3.3 HDGF PKNOX1 ZSCAN4 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 CREM CSF2RB NCF4-AS1 NCF4 ENSG00000229971 MPST LOC105373023
GH22J036449 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 23.5 -460.7 -460724 7.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF2 IRF4 CSF2RB APOL3 APOL2 NCF4 FOXRED2 ENSG00000228719 TXN2 APOL1 ENSG00000252225
GH22J036859 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.2 -51.9 -51926 4.2 HDGF PKNOX1 SMAD1 RB1 KLF17 STAT5A BATF KLF5 IRF4 ZNF207 NCF4 PVALB CSF2RB CYTH4 RAC2 NCF4-AS1
GH22J037281 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20 +370.2 370210 4.3 HDGF IRF4 ZNF143 ATF7 ETV6 IKZF2 RUNX3 CREM SMARCA5 ELF1 CYTH4 CSF2RB GGA1 RPS15AP38 NCF4 EIF3L EIF3D RAC2 LGALS2 SH3BP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSF2RB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSF2RB gene promoter:
  • IRF-1
  • AML1a
  • RORalpha1
  • Chx10
  • GR-beta
  • GR-alpha
  • GR
  • ARP-1
  • POU2F1a
  • POU2F1

Genomic Locations for CSF2RB Gene

Genomic Locations for CSF2RB Gene
chr22:36,913,575-36,940,449
(GRCh38/hg38)
Size:
26,875 bases
Orientation:
Plus strand
chr22:37,309,670-37,336,491
(GRCh37/hg19)
Size:
26,822 bases
Orientation:
Plus strand

Genomic View for CSF2RB Gene

Genes around CSF2RB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSF2RB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSF2RB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSF2RB Gene

Proteins for CSF2RB Gene

  • Protein details for CSF2RB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32927-IL3RB_HUMAN
    Recommended name:
    Cytokine receptor common subunit beta
    Protein Accession:
    P32927
    Secondary Accessions:
    • Q5JZI1
    • Q6ICE0

    Protein attributes for CSF2RB Gene

    Size:
    897 amino acids
    Molecular mass:
    97336 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for CSF2RB Gene

    Alternative splice isoforms for CSF2RB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSF2RB Gene

Post-translational modifications for CSF2RB Gene

Other Protein References for CSF2RB Gene

No data available for DME Specific Peptides for CSF2RB Gene

Domains & Families for CSF2RB Gene

Gene Families for CSF2RB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CSF2RB Gene

Graphical View of Domain Structure for InterPro Entry

P32927

UniProtKB/Swiss-Prot:

IL3RB_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
genes like me logo Genes that share domains with CSF2RB: view

Function for CSF2RB Gene

Molecular function for CSF2RB Gene

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

Phenotypes From GWAS Catalog for CSF2RB Gene

Gene Ontology (GO) - Molecular Function for CSF2RB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004896 cytokine receptor activity IEA --
GO:0004912 contributes_to interleukin-3 receptor activity TAS 9410898
GO:0004914 contributes_to interleukin-5 receptor activity TAS 9410898
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with CSF2RB: view
genes like me logo Genes that share phenotypes with CSF2RB: view

Human Phenotype Ontology for CSF2RB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CSF2RB Gene

MGI Knock Outs for CSF2RB:

Animal Model Products

Clone Products

  • R&D Systems cDNA Clones for CSF2RB (Common beta Chain)

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CSF2RB Gene

Localization for CSF2RB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSF2RB Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSF2RB gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSF2RB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,NAS 1702217
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CSF2RB: view

Pathways & Interactions for CSF2RB Gene

SuperPathways for CSF2RB Gene

SuperPathway Contained pathways
1 RET signaling
2 PEDF Induced Signaling
3 TGF-Beta Pathway
4 Akt Signaling
5 G beta-gamma signalling through PI3Kgamma
genes like me logo Genes that share pathways with CSF2RB: view

Pathways by source for CSF2RB Gene

1 R&D Systems pathway for CSF2RB Gene
1 Cell Signaling Technology pathway for CSF2RB Gene

SIGNOR curated interactions for CSF2RB Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CSF2RB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction NAS 1702217
GO:0007585 respiratory gaseous exchange TAS 9410898
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0019221 cytokine-mediated signaling pathway TAS,IEA --
genes like me logo Genes that share ontologies with CSF2RB: view

Drugs & Compounds for CSF2RB Gene

(6) Drugs for CSF2RB Gene - From: DrugBank, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sargramostim Approved, Investigational Pharma binder, Target, agonist 0
Leukine Approved on November 24, 1995/ Approved November 1996 Pharma 0
NPI 32101 Investigational Pharma Target 0
Resatorvid Investigational Pharma Target 0
mannose Investigational Pharma 0
genes like me logo Genes that share compounds with CSF2RB: view

Transcripts for CSF2RB Gene

mRNA/cDNA for CSF2RB Gene

Unigene Clusters for CSF2RB Gene

Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage):
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for CSF2RB (Common beta Chain)

Alternative Splicing Database (ASD) splice patterns (SP) for CSF2RB Gene

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

Relevant External Links for CSF2RB Gene

GeneLoc Exon Structure for
CSF2RB
ECgene alternative splicing isoforms for
CSF2RB

Expression for CSF2RB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSF2RB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSF2RB Gene

This gene is overexpressed in Whole Blood (x28.6).

Protein differential expression in normal tissues from HIPED for CSF2RB Gene

This gene is overexpressed in Tlymphocyte (58.1) and Monocytes (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CSF2RB Gene



Protein tissue co-expression partners for CSF2RB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSF2RB Gene:

CSF2RB

SOURCE GeneReport for Unigene cluster for CSF2RB Gene:

Hs.592192

Evidence on tissue expression from TISSUES for CSF2RB Gene

  • Blood(2.8)
  • Spleen(2.2)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSF2RB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • respiratory
Regions:
Thorax:
  • diaphragm
  • lung
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CSF2RB: view

No data available for mRNA Expression by UniProt/SwissProt for CSF2RB Gene

Orthologs for CSF2RB Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSF2RB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSF2RB 34 33
  • 98.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSF2RB 34 33
  • 77.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSF2RB 34 33
  • 77.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csf2rb 33
  • 70.22 (n)
mouse
(Mus musculus)
Mammalia Csf2rb2 16 34 33
  • 69.84 (n)
Csf2rb 34
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CSF2RB 34
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CSF2RB 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSF2RB 33
  • 49.44 (n)
-- 34
  • 28 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CSF2RB 34
  • 25 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii csf2rb 34
  • 21 (a)
OneToOne
Species where no ortholog for CSF2RB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSF2RB Gene

ENSEMBL:
Gene Tree for CSF2RB (if available)
TreeFam:
Gene Tree for CSF2RB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSF2RB: view image

Paralogs for CSF2RB Gene

Pseudogenes.org Pseudogenes for CSF2RB Gene

genes like me logo Genes that share paralogs with CSF2RB: view

No data available for Paralogs for CSF2RB Gene

Variants for CSF2RB Gene

Sequence variations from dbSNP and Humsavar for CSF2RB Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs672601313 pathogenic, Surfactant metabolism dysfunction, pulmonary, 5 36,930,468(+) C/A/T coding_sequence_variant, missense_variant, stop_gained
rs145546133 uncertain-significance, not specified 36,929,762(+) C/A/T coding_sequence_variant, missense_variant
rs568607741 uncertain-significance, not specified 36,937,931(+) CC/C coding_sequence_variant, downstream_transcript_variant, frameshift, genic_downstream_transcript_variant
rs115580664 benign, not specified 36,937,404(+) C/T coding_sequence_variant, stop_gained, synonymous_variant
rs117405606 benign, not specified 36,933,819(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSF2RB Gene

Variant ID Type Subtype PubMed ID
esv2758837 CNV gain+loss 17122850

Variation tolerance for CSF2RB Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.34; 76.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSF2RB Gene

Human Gene Mutation Database (HGMD)
CSF2RB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSF2RB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSF2RB Gene

Disorders for CSF2RB Gene

MalaCards: The human disease database

(3) MalaCards diseases for CSF2RB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IL3RB_HUMAN
  • 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. {ECO:0000269 PubMed:21075760}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CSF2RB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSF2RB: view

No data available for Genatlas for CSF2RB Gene

Publications for CSF2RB Gene

  1. Association between interleukin-3 receptor alpha polymorphism and schizophrenia in the Chinese population. (PMID: 18547720) Sun S … Zhang XY (Neuroscience letters 2008) 3 22 44 58
  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. (PMID: 16754968) Carr PD … Young IG (Acta crystallographica. Section F, Structural biology and crystallization communications 2006) 3 4 22 58
  3. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. (PMID: 22138694) Lin Z … Gu J (Nature genetics 2011) 3 44 58
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58

Products for CSF2RB Gene

Sources for CSF2RB Gene

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