CSF2RB Chromosome 22
Colony stimulating factor 2 receptor subunit beta
Upload your DNA to see your personal genotypes for variants in CSF2RB.
What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100368
Associated Conditions (6)
Inborn genetic diseases
Acute myeloid leukemia
Surfactant metabolism dysfunction
pulmonary
5
CSF2RB-related disorder
Key Variants
RS113156338
Conflicting classifications of pathogenicity
Inborn genetic diseases, Acute myeloid leukemia, Inborn genetic diseases
Health Risk
RS139685237
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140436564
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1417410121
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151112655
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368852888
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373460188
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 5
Health Risk
RS375819512
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS558205050
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 5
Health Risk
RS560156832
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 5
Health Risk
RS568607741
Conflicting classifications of pathogenicity
Health Risk
RS751339649
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113156338 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Acute myeloid leukemia, Inborn genetic diseases |
| RS139685237 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140436564 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1417410121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151112655 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368852888 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373460188 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 5 |
| RS375819512 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS558205050 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 5 |
| RS560156832 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 5 |
| RS568607741 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751339649 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755780700 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769513501 | Health Risk | Conflicting classifications of pathogenicity | CSF2RB-related disorder, CSF2RB-related disorder |
| RS2517990619 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 5 |