CSF2RA Chromosome Y
Colony stimulating factor 2 receptor subunit alpha
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What This Gene Does
The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Pseudoautosomal region 1"
Locus Type
gene with protein product
Location
Xp22.32 and Yp11.3
Ensembl
ENSG00000198223
Associated Conditions (7)
Surfactant metabolism dysfunction
pulmonary
4
CSF2RA-related disorder
Thyroid cancer
nonmedullary
1
Key Variants
RS111646204
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS140664183
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS142203271
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS371464087
Conflicting classifications of pathogenicity
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS137852353
Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS142796603
Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS2148504379
Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS2522384987
Likely pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS1196937077
Pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS1395037247
Pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS1414104515
Pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
RS2091055139
Pathogenic
Surfactant metabolism dysfunction, pulmonary, 4
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111646204 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS140664183 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS142203271 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS371464087 | Health Risk | Conflicting classifications of pathogenicity | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS137852353 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS142796603 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2148504379 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2522384987 | Health Risk | Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS1196937077 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS1395037247 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS1414104515 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2091055139 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2091060104 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2091299213 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2092302661 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2148312047 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2148417003 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2521947117 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2522387231 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS2522752773 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS750023118 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS753455319 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS756203389 | Health Risk | Pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |
| RS149151916 | Health Risk | Pathogenic/Likely pathogenic | Surfactant metabolism dysfunction, pulmonary, 4 |