CSF2RB colony stimulating factor 2 receptor subunit beta
Gene ID: 1439, updated on 2-Nov-2024Gene type: protein coding
Also known as: CD131; IL3RB; IL5RB; SMDP5; CDw131; betaGMR
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- Go to complete Gene record for CSF2RB
- Go to Variation Viewer for CSF2RB variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. GeneReviews: Not available | |
| Surfactant metabolism dysfunction, pulmonary, 5 | See labs |
Genomic context
- Location:
- 22q12.3
- Sequence:
- Chromosome: 22; NC_000022.11 (36913628..36940439)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CSF2RB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CSF2RB database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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