Gene Gene information from NCBI Gene database.
Entrez ID 1439
Gene name Colony stimulating factor 2 receptor subunit beta
Gene symbol CSF2RB
Synonyms (NCBI Gene)
CD131CDw131IL3RBIL5RBSMDP5betaGMR
Chromosome 22
Chromosome location 22q12.3
Summary 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]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs672601313 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT756278 hsa-miR-877-3p qRT-PCRELISA 34768991
MIRT911750 hsa-miR-1297 CLIP-seq
MIRT911751 hsa-miR-132 CLIP-seq
MIRT911752 hsa-miR-137 CLIP-seq
MIRT911753 hsa-miR-150 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
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, 29374162
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138981 2436 ENSG00000100368
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P32927
Protein name Cytokine receptor common subunit beta (CDw131) (GM-CSF/IL-3/IL-5 receptor common beta subunit) (CD antigen CD131)
Protein function Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with differ
PDB 1C8P , 1EGJ , 1GH7 , 2GYS , 2NA8 , 2NA9 , 4NKQ , 5DWU , 8TLD
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
YNGIWSEWSE
ARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPN
PSKSHLFQNGSAELWPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIE
DPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSR
SLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQ
GAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSGDTEDPGVASGYVSSADLVFT
PNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSP
RNNPVPPEAKSPVLNPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPS
SPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC
Sequence length 897
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CSF2RB-related disorder Likely pathogenic rs769513501 RCV003419100
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Surfactant metabolism dysfunction, pulmonary, 5 Pathogenic rs2517990619 RCV000022596
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 27377463
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 3337909 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27821400
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27821400
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 34122426 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 36532080 Associate
★☆☆☆☆
Found in Text Mining only
beta Thalassemia Beta thalassemia Pubtator 8417793 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34729943 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29516317 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 27373512, 27377463
★☆☆☆☆
Found in Text Mining only