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CSF2RB (colony stimulating factor 2 receptor subunit beta)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1439
Gene nameGene Name - the full gene name approved by the HGNC.
Colony stimulating factor 2 receptor subunit beta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CSF2RB
SynonymsGene synonyms aliases
CD131, CDw131, IL3RB, IL5RB, SMDP5, betaGMR
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
SummarySummary of gene provided in NCBI Entrez 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]
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs672601313 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004912 Function Interleukin-3 receptor activity TAS 9410898
GO:0004914 Function Interleukin-5 receptor activity TAS 9410898
GO:0005515 Function Protein binding IPI 1495999, 9516124, 16437163, 17828305, 18692472, 20802515
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P32927
Protein name Cytokine receptor common subunit beta (CDw131) (GM-CSF/IL-3/IL-5 receptor common beta subunit) (CD antigen CD131)
Protein function High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor.
PDB 1C8P , 1EGJ , 1GH7 , 2GYS , 2NA8 , 2NA9 , 4NKQ , 5DWU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09294 Interfer-bind
323 → 430
Interferon-alpha/beta receptor, fibronectin type III
 Domain
Sequence 
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVT
LIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPCQSFVVTDVDYFSFQPDRPLG
TRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQD
SWEDAAILLSNTSQATLGPEHLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPG
DEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSL
HTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWET
MKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALPALEPSTRYWARVRVRTSRTG
YNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPN
PSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIE
DPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSR
SLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQ
GAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFT
PNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSP
RNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPS
SPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC
Sequence length 897
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Cytokine-cytokine receptor interaction
Apoptosis
JAK-STAT signaling pathway
Pathways in cancer 		  Interleukin-3, Interleukin-5 and GM-CSF signaling
RAF/MAP kinase cascade
Surfactant metabolism
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
Interleukin receptor SHC signaling
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Disease name Disease term References
Pulmonary Alveolar Proteinosis
Pulmonary alveolar proteinosis, congenital
Hereditary pulmonary alveolar proteinosis
Unipolar Depression
Major Depressive Disorder

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