IL6ST
interleukin 6 cytokine family signal transducer
Summary
The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
Known Variants404 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1579734448 | 5:54,543,581 | A/G | — | pathogenic |
| rs62363865 | 5:55,230,880 | G/C | downstream gene variant | — |
| rs2533424426 | 5:55,236,912 | A/T | — | uncertain significance |
| rs1337649433 | 5:55,236,927 | C/T | — | uncertain significance |
| rs530274808 | 5:55,236,928 | G/A | — | likely benign |
| rs1750875485 | 5:55,236,930 | C/T | — | uncertain significance |
| rs150684244 | 5:55,236,931 | T/C | — | likely benign |
| rs980710504 | 5:55,236,935 | C/T | — | uncertain significance |
| rs1266664090 | 5:55,236,936 | G/A | — | uncertain significance |
| rs879036952 | 5:55,236,959 | T/A | — | uncertain significance |
| rs191125510 | 5:55,236,965 | A/G | — | uncertain significance |
| rs750176665 | 5:55,236,968 | C/T | — | uncertain significance |
| rs1488091436 | 5:55,237,004 | A/T | — | uncertain significance |
| rs61748224 | 5:55,237,014 | C/T | — | benign |
| rs2111579574 | 5:55,237,023 | C/G | — | uncertain significance |
| rs2533425787 | 5:55,237,026 | T/C | — | uncertain significance |
| rs778244030 | 5:55,237,028 | C/T | — | uncertain significance |
| rs771304811 | 5:55,237,035 | C/G | — | uncertain significance |
| rs201093293 | 5:55,237,049 | G/A | — | uncertain significance |
| rs372381572 | 5:55,237,069 | T/A | — | uncertain significance |
| rs761846914 | 5:55,237,074 | T/C | — | uncertain significance |
| rs760440573 | 5:55,237,085 | C/A | — | uncertain significance |
| rs202126084 | 5:55,237,093 | T/C | — | likely benign |
| rs2533426498 | 5:55,237,100 | A/G | — | uncertain significance |
| rs568236223 | 5:55,237,103 | T/G | — | uncertain significance |
| rs778300992 | 5:55,237,104 | G/T | — | uncertain significance |
| rs747519867 | 5:55,237,120 | T/C | — | likely benign |
| rs535657497 | 5:55,237,125 | G/T | — | uncertain significance |
| rs2111581243 | 5:55,237,141 | C/G | — | uncertain significance |
| rs145618093 | 5:55,237,142 | T/C | — | conflicting classifications of pathogenicity |
| rs757168359 | 5:55,237,150 | T/G | — | likely benign |
| rs1343923085 | 5:55,237,153 | T/G | — | likely benign |
| rs1457079460 | 5:55,237,154 | G/A | — | uncertain significance |
| rs112330319 | 5:55,237,157 | A/C | — | uncertain significance |
| rs760625439 | 5:55,237,187 | T/G | — | uncertain significance |
| rs2111582158 | 5:55,237,193 | C/T | — | uncertain significance |
| rs770658344 | 5:55,237,202 | T/C | — | uncertain significance |
| rs2533427675 | 5:55,237,209 | T/C | — | uncertain significance |
| rs2533427734 | 5:55,237,212 | A/G | — | uncertain significance |
| rs1750901665 | 5:55,237,217 | T/C | — | uncertain significance |
| rs765498089 | 5:55,237,220 | T/C | — | uncertain significance |
| rs1160375980 | 5:55,237,235 | C/G | — | uncertain significance |
| rs752893132 | 5:55,237,236 | T/G | — | likely benign |
| rs139862240 | 5:55,237,239 | G/A | — | uncertain significance |
| rs146696658 | 5:55,237,254 | C/T | — | uncertain significance |
| rs756534724 | 5:55,237,263 | C/T | — | uncertain significance |
| rs762105158 | 5:55,237,264 | A/C | — | uncertain significance |
| rs1038811058 | 5:55,237,267 | A/G | — | likely benign |
| rs1288343897 | 5:55,237,276 | T/C | — | likely benign |
| rs777292351 | 5:55,237,285 | T/C | — | likely benign |
| rs776416568 | 5:55,237,292 | C/T | — | uncertain significance |
| rs2533428754 | 5:55,237,305 | C/T | — | uncertain significance |
| rs2533428968 | 5:55,237,323 | A/C | — | uncertain significance |
| rs775718952 | 5:55,237,326 | C/G | — | uncertain significance |
| rs142623813 | 5:55,237,327 | G/A | — | likely benign |
| rs2111584762 | 5:55,237,336 | G/A | — | likely benign |
| rs751591161 | 5:55,237,351 | C/G | — | likely benign |
| rs768129650 | 5:55,237,352 | G/A | — | uncertain significance |
| rs1273974875 | 5:55,237,383 | C/T | — | uncertain significance |
| rs780528560 | 5:55,237,384 | G/A | — | likely benign |
| rs2111585826 | 5:55,237,390 | A/C | — | pathogenic |
| rs2533429897 | 5:55,237,414 | T/C | — | likely benign |
| rs746583730 | 5:55,237,422 | A/G | — | uncertain significance |
| rs61755738 | 5:55,237,432 | A/C | — | likely benign |
| rs138205220 | 5:55,237,435 | A/C | — | uncertain significance |
| rs1320304244 | 5:55,237,439 | C/T | — | uncertain significance |
| rs1403473468 | 5:55,237,453 | C/T | — | likely benign |
| rs61740791 | 5:55,237,457 | G/A | — | uncertain significance |
| rs1228531384 | 5:55,237,468 | G/T | — | pathogenic |
| rs1750927153 | 5:55,237,477 | C/A | — | likely benign |
| rs1750927761 | 5:55,237,484 | A/G | — | uncertain significance |
| rs140896990 | 5:55,237,492 | G/A | — | likely benign |
| rs146333104 | 5:55,237,501 | T/C | — | likely benign |
| rs773888810 | 5:55,237,512 | T/G | — | uncertain significance |
| rs1750929743 | 5:55,237,520 | T/G | — | uncertain significance |
| rs780183208 | 5:55,237,536 | A/G | — | likely benign |
| rs376597375 | 5:55,237,537 | T/C | — | likely benign |
| rs368730281 | 5:55,237,546 | A/C | — | uncertain significance |
| rs2533431061 | 5:55,237,563 | T/A | — | uncertain significance |
| rs1265205521 | 5:55,237,587 | C/T | — | uncertain significance |
| rs1205716279 | 5:55,237,590 | C/A | — | uncertain significance |
| rs1350091204 | 5:55,237,596 | C/T | — | uncertain significance |
| rs1210887003 | 5:55,237,598 | T/C | — | uncertain significance |
| rs2533431336 | 5:55,237,605 | A/C | — | uncertain significance |
| rs1441961601 | 5:55,237,613 | T/C | — | uncertain significance |
| rs2533431415 | 5:55,237,614 | C/A | — | uncertain significance |
| rs200652995 | 5:55,237,622 | A/G | — | uncertain significance |
| rs773371617 | 5:55,237,644 | T/C | — | uncertain significance |
| rs761272550 | 5:55,237,652 | G/T | — | likely benign |
| rs142901689 | 5:55,237,655 | A/G | — | conflicting classifications of pathogenicity |
| rs1750941324 | 5:55,237,656 | G/C | — | likely benign |
| rs1430106942 | 5:55,237,666 | T/G | — | likely benign |
| rs2533435946 | 5:55,238,495 | T/C | — | uncertain significance |
| rs373846785 | 5:55,238,498 | C/T | — | uncertain significance |
| rs1483311583 | 5:55,238,500 | T/C | — | uncertain significance |
| rs1264917743 | 5:55,238,508 | G/A | — | uncertain significance |
| rs371238130 | 5:55,238,525 | G/A | — | likely benign |
| rs770207108 | 5:55,238,528 | A/G | — | likely benign |
| rs775650484 | 5:55,238,532 | T/C | — | uncertain significance |
| rs200816863 | 5:55,238,533 | G/A | — | uncertain significance |
Showing 100 of 404 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.