Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | IL21R |
| Gene Name: | IL21R |
| Protein Full Name: | Interleukin-21 receptor |
| Alias: | IL21R; Interleukin 21 receptor; Novel interleukin receptor |
| Mass (Da): | 59111 |
| Number AA: | 538 |
| UniProt ID: | Q9HBE5 |
| Locus ID: | 50615 |
| COSMIC ID: | IL21R |
| Gene location on chromosome: | 16p12.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20296 |
| Percent of cancer specimens with mutations: | 0.04 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(3;16)(q27;p11) translocation with BCL6 in diffuse large B-cell lymphoma |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | IL21R is the receptor for interleukin-12, which plays an important role in proliferation and differentiation of T/B/NK cells via activation of JAK1/3-STAT1/3, MAPK, and PI3K pathways. It has been implicated in multiple lymphocytic tumors (e.g. multiple myeloma, acute T-cell leukemia, Hodgkin lymphoma, B-chronic lymphocytic leukemia, follicular lymphoma, and diffuse large B-cell lymphoma) where it has been noted to induce proliferation and inhibit apoptosis. A t(3;16)(q27;p11) translocation with BCL6 substituted the promoter sequence of IL21R with the regulatory sequences of BCL6, which may dysregulate its expression. |