IL5RA
interleukin 5 receptor subunit alpha
Summary
The protein encoded by this gene is an interleukin 5 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 IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs340833 | 3:3,111,458 | G/A | 3 prime UTR variant | — |
| rs146918848 | 3:3,111,976 | G/A | — | uncertain significance |
| rs149306264 | 3:3,116,518 | A/G | — | uncertain significance |
| rs764935099 | 3:3,118,234 | G/C | — | uncertain significance |
| rs748207374 | 3:3,118,272 | A/G | — | uncertain significance |
| rs1325506022 | 3:3,118,302 | T/G | — | uncertain significance |
| rs17882210 | 3:3,118,498 | A/G | intron variant | — |
| rs189696246 | 3:3,122,291 | G/A | intron variant | — |
| rs3804797 | 3:3,129,632 | T/C | intron variant | — |
| rs334809 | 3:3,130,221 | A/T | intron variant | — |
| rs3804795 | 3:3,130,645 | T/C | regulatory region variant | — |
| rs139530354 | 3:3,133,937 | C/A | — | uncertain significance |
| rs926143656 | 3:3,133,963 | G/C | — | uncertain significance |
| rs761645832 | 3:3,133,997 | G/C | — | uncertain significance |
| rs1334003804 | 3:3,136,997 | T/G | — | uncertain significance |
| rs1703306931 | 3:3,137,002 | G/T | — | uncertain significance |
| rs73122541 | 3:3,139,546 | G/A | — | benign |
| rs140027626 | 3:3,139,568 | G/C | — | uncertain significance |
| rs369877234 | 3:3,139,623 | G/T | — | uncertain significance |
| rs201368484 | 3:3,139,640 | C/G | — | uncertain significance |
| rs150869333 | 3:3,139,692 | C/A | — | uncertain significance |
| rs761552425 | 3:3,139,727 | G/T | — | uncertain significance |
| rs1479231333 | 3:3,139,838 | C/G | — | uncertain significance |
| rs769194828 | 3:3,139,902 | C/T | — | uncertain significance |
| rs141948767 | 3:3,139,910 | T/C | — | benign |
| rs1221281869 | 3:3,139,940 | G/C | — | uncertain significance |
| rs760688252 | 3:3,139,956 | A/G | — | uncertain significance |
| rs186483890 | 3:3,140,998 | A/G | upstream gene variant | — |
| rs546927559 | 3:3,141,794 | C/T | — | — |
| rs9831572 | 3:3,142,173 | A/G | upstream gene variant | — |
| rs6771148 | 3:3,143,267 | G/C | regulatory region variant | — |
| rs771776256 | 3:3,143,400 | A/C | — | uncertain significance |
| rs201305563 | 3:3,143,447 | C/T | — | likely benign |
| rs758033906 | 3:3,143,486 | C/A | — | uncertain significance |
| rs1703666990 | 3:3,143,505 | T/C | — | uncertain significance |
| rs764519383 | 3:3,144,363 | T/A | — | uncertain significance |
| rs145596269 | 3:3,144,410 | C/A | — | likely benign |
| rs1468407723 | 3:3,144,437 | C/G | — | uncertain significance |
| rs17881144 | 3:3,145,371 | A/T | downstream gene variant | — |
| rs2471149202 | 3:3,146,628 | G/A | — | uncertain significance |
| rs200813490 | 3:3,146,659 | C/T | — | likely benign |
| rs17879755 | 3:3,147,981 | G/A | downstream gene variant | — |
| rs77530409 | 3:3,150,311 | C/T | 5 prime UTR variant | — |
| rs17884994 | 3:3,150,341 | G/T | 5 prime UTR variant | — |
| rs2290608 | 3:3,151,759 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.