IL3RA
interleukin 3 receptor subunit alpha
Summary
The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28866889 | Y:1,404,604 | A/C | — | — |
| rs17884006 | Y:1,414,184 | G/A | — | — |
| rs6422441 | Y:1,420,937 | C/T | — | — |
| rs6603272 | Y:1,421,138 | G/A | — | — |
| rs6645249 | Y:1,425,890 | A/G | — | — |
| rs147772004 | X:1,467,397 | C/T | — | likely benign |
| rs17879004 | X:1,467,404 | A/C | synonymous variant | — |
| rs17883572 | X:1,471,062 | G/C | — | likely benign |
| rs148752792 | X:1,471,102 | C/T | — | benign |
| rs17883192 | X:1,471,542 | C/G | intron variant | — |
| rs767733607 | X:1,501,319 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.