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| Official Symbol of Gene | IL7R |
| Species | Homo sapiens |
| Entrez Gene ID | 3575 |
| Official Full Name | interleukin 7 receptor |
| Also known as | ILRA; CD127; IL7RA; CDW127; IMD104; sIL-7R; lnc-IL7R; IL7Ralpha; IL-7Ralpha; IL-7R-alpha |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000168685 MIM:146661; AllianceGenome:HGNC:6024 |
| Map Location | 5p13.2 |
| Variation Type | haplotype |
| refSNP ID | Hap 1, Hap 2, Hap 4 |
| Detected Sample | PBMC |
| Sample Detail | EDTA-treated whole blood |
| Detected Method | semiquantitative RT-PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Western Sydney |
| Sample Size | N/A |
| Pubmed ID | 24147013 |
| Year | 2013 |
| Title | IL7Rα expression and upregulation by IFNβ in dendritic cell subsets is haplotype-dependent |
| Risk Type | Treatment risk |
| Main Result | Positive |
| Result | Similar to our previous findings in CD4 T cells, IL7Rα Hap 4 was not upregulated in response to IFNβ in any of the subsets. In contrast, Hap 1 was upregulated in all subsets in response to IFNβ, and mean Hap 2 IL7Rα levels were increased in all subsets. As a result, Hap 4 was consistently expressed at the lowest level of all the haplotypes in all IFNβ-treated cells, significantly lower than Hap 1 and Hap 2 in maturing DCs. In response to IFNβ, IL7Rα Hap 4 transcript (rs3194051 ‘G’) was expressed at a relatively lower level compared to Hap 1 or Hap 2 (both rs3194051 ‘A’) than in the absence of IFNβ. A significant proportion of the combined cohort decreased relative expression of Hap4 in response to IFNβ when the 3 cell subsets were included in the analysis; this did not reach significance for individual groups or cell subsets, The trend was the same in MS and controls. |
| Mechanism/Pathway | We found an association of the interleukin-7 receptor α chain (IL7Rα) with MS and have identified key functional differences between IL7Rα haplotypes that are likely to affect MS susceptibility.IL7Rα is a subunit of receptors for IL-7 and thymic stromal lymphopoietin (TSLP) and is expressed on T cells, dendritic cells (DCs) and other myeloid cells.IL-7 is a critical and nonredundant cytokine mediating survival and differentiation of T cells and their progenitors.IL7Rα has four major haplotypes.Haplotype 2 (Hap 2) is protective against MS and cells exhibit reduced splicing of exon 6 from the transcript, producing less of a soluble isoform (sIL7Rα).IL7Rα signaling exerts powerful effects on myeloid cell function, dependent on the microenvironment and on differentiation status. |

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