IL5
interleukin 5
Summary
This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2069818 | 5:131,877,524 | G/T | — | benign |
| rs142865560 | 5:131,877,596 | C/G | — | uncertain significance |
| rs181065673 | 5:131,878,817 | G/A | — | uncertain significance |
| rs112946922 | 5:131,879,063 | C/A | — | benign |
| rs2069812 | 5:131,879,916 | A/G | upstream gene variant | — |
| rs2078387 | 5:131,884,894 | C/A | intron variant | — |
| rs876658212 | 5:131,893,017 | A/G | missense variant | pathogenic |
| rs377260382 | 5:131,893,019 | G/A | missense variant | pathogenic |
| rs748086984 | 5:131,893,147 | T/A | splice region variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.