EPOR
erythropoietin receptor
Summary
This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Known Variants100 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553452571 | 19:11,487,884 | T/C | — | uncertain significance |
| rs542954029 | 19:11,487,976 | G/T | — | benign |
| rs771124995 | 19:11,487,990 | C/T | — | benign |
| rs886054191 | 19:11,488,041 | G/A | — | uncertain significance |
| rs141524122 | 19:11,488,083 | T/C | — | benign |
| rs150535617 | 19:11,488,156 | C/T | — | benign |
| rs140441486 | 19:11,488,235 | G/A | — | benign |
| rs200997864 | 19:11,488,625 | C/T | — | benign |
| rs199784763 | 19:11,488,628 | A/G | — | benign |
| rs770608744 | 19:11,488,720 | A/G | — | uncertain significance |
| rs142094773 | 19:11,488,725 | G/A | — | likely benign |
| rs62638745 | 19:11,488,727 | T/C | missense variant | likely benign |
| rs370841243 | 19:11,488,731 | A/G | — | likely benign |
| rs762427207 | 19:11,488,733 | T/C | — | uncertain significance |
| rs775164142 | 19:11,488,743 | C/T | — | likely benign |
| rs141096553 | 19:11,488,759 | G/A | — | likely benign |
| rs146937816 | 19:11,488,760 | G/A | — | benign |
| rs767356681 | 19:11,488,763 | C/G | — | uncertain significance |
| rs138190746 | 19:11,488,789 | A/G | — | benign |
| rs1380587044 | 19:11,488,825 | G/C | — | uncertain significance |
| rs140903357 | 19:11,488,846 | A/G | — | benign |
| rs2512415841 | 19:11,488,853 | A/C | — | uncertain significance |
| rs121918116 | 19:11,488,870 | C/T | stop gained | pathogenic |
| rs121917830 | 19:11,488,871 | C/T | stop gained | pathogenic |
| rs62638744 | 19:11,488,877 | C/T | — | conflicting classifications of pathogenicity |
| rs1968309037 | 19:11,488,900 | C/T | — | uncertain significance |
| rs121917831 | 19:11,488,909 | G/C | stop gained | affects |
| rs778502413 | 19:11,488,926 | C/G | — | uncertain significance |
| rs373647199 | 19:11,488,951 | C/T | — | likely benign |
| rs2144694164 | 19:11,488,980 | C/T | — | uncertain significance |
| rs2144694278 | 19:11,489,030 | G/A | — | uncertain significance |
| rs763877221 | 19:11,489,047 | C/T | — | likely benign |
| rs199645071 | 19:11,489,048 | G/A | — | conflicting classifications of pathogenicity |
| rs35423344 | 19:11,489,049 | G/C | — | benign |
| rs192441411 | 19:11,489,060 | A/G | — | uncertain significance |
| rs183679845 | 19:11,489,115 | G/A | — | uncertain significance |
| rs138884102 | 19:11,489,146 | C/T | — | likely benign |
| rs754708788 | 19:11,489,165 | G/A | — | likely benign |
| rs576644426 | 19:11,489,177 | C/T | — | uncertain significance |
| rs780132743 | 19:11,489,188 | G/T | — | likely benign |
| rs776698147 | 19:11,489,207 | G/A | — | uncertain significance |
| rs748035060 | 19:11,489,212 | C/T | — | likely benign |
| rs2144694734 | 19:11,489,230 | G/C | — | likely benign |
| rs759093549 | 19:11,489,234 | C/T | — | likely benign |
| rs1968317522 | 19:11,489,381 | T/C | — | uncertain significance |
| rs200057444 | 19:11,489,408 | C/T | — | uncertain significance |
| rs886054192 | 19:11,489,418 | G/A | — | uncertain significance |
| rs369085901 | 19:11,489,421 | C/T | — | uncertain significance |
| rs184452209 | 19:11,490,064 | C/G | downstream gene variant | — |
| rs1968345687 | 19:11,491,579 | C/T | — | uncertain significance |
| rs142951311 | 19:11,491,586 | G/C | — | benign |
| rs768211482 | 19:11,491,644 | A/C | — | uncertain significance |
| rs764244373 | 19:11,491,740 | G/A | — | uncertain significance |
| rs542643797 | 19:11,491,755 | G/C | — | uncertain significance |
| rs765522005 | 19:11,491,756 | G/A | — | uncertain significance |
| rs773564773 | 19:11,491,774 | A/C | — | likely benign |
| rs747618605 | 19:11,491,808 | G/A | — | uncertain significance |
| rs61729384 | 19:11,491,814 | G/T | — | benign |
| rs1312573655 | 19:11,491,816 | C/T | — | uncertain significance |
| rs776887278 | 19:11,491,861 | C/G | — | conflicting classifications of pathogenicity |
| rs750657898 | 19:11,491,875 | A/G | — | uncertain significance |
| rs1968352260 | 19:11,491,886 | C/T | — | uncertain significance |
| rs139849355 | 19:11,492,385 | C/A | — | benign |
| rs2512419827 | 19:11,492,391 | T/G | — | uncertain significance |
| rs775215856 | 19:11,492,394 | C/A | — | uncertain significance |
| rs377322757 | 19:11,492,395 | G/T | — | uncertain significance |
| rs1169353542 | 19:11,492,399 | G/A | — | uncertain significance |
| rs774431553 | 19:11,492,454 | G/A | — | uncertain significance |
| rs2512419965 | 19:11,492,502 | G/A | — | likely benign |
| rs1160930591 | 19:11,492,513 | G/A | — | uncertain significance |
| rs114645751 | 19:11,492,515 | G/A | — | benign |
| rs1968365646 | 19:11,492,516 | T/A | — | uncertain significance |
| rs1968366098 | 19:11,492,535 | T/A | — | likely benign |
| rs750556052 | 19:11,492,645 | C/T | — | uncertain significance |
| rs373833534 | 19:11,492,698 | G/A | — | uncertain significance |
| rs146235694 | 19:11,492,737 | G/A | — | conflicting classifications of pathogenicity |
| rs3216772 | 19:11,493,042 | T/A | — | benign |
| rs199788179 | 19:11,493,766 | G/T | — | benign |
| rs151226066 | 19:11,493,775 | G/T | — | likely benign |
| rs370865377 | 19:11,493,780 | G/A | — | conflicting classifications of pathogenicity |
| rs140267472 | 19:11,493,791 | C/G | — | likely benign |
| rs780617943 | 19:11,493,809 | A/G | — | conflicting classifications of pathogenicity |
| rs35977803 | 19:11,493,856 | C/A | — | benign |
| rs45516306 | 19:11,493,887 | C/T | — | benign |
| rs1232303475 | 19:11,493,918 | G/A | — | uncertain significance |
| rs111612809 | 19:11,494,643 | T/C | regulatory region variant | — |
| rs192525298 | 19:11,494,762 | T/C | — | likely benign |
| rs1231342318 | 19:11,494,814 | A/G | — | uncertain significance |
| rs763588558 | 19:11,494,826 | C/A | — | uncertain significance |
| rs1968403432 | 19:11,494,837 | C/A | — | uncertain significance |
| rs577368929 | 19:11,494,860 | G/A | — | likely benign |
| rs781761386 | 19:11,494,871 | C/T | — | uncertain significance |
| rs1239516139 | 19:11,494,874 | G/A | — | uncertain significance |
| rs886054193 | 19:11,494,891 | C/A | — | uncertain significance |
| rs1358532565 | 19:11,494,892 | C/T | — | uncertain significance |
| rs1368665202 | 19:11,494,908 | C/T | — | uncertain significance |
| rs140630699 | 19:11,494,938 | C/T | — | benign |
| rs886054194 | 19:11,494,951 | C/T | — | uncertain significance |
| rs147119630 | 19:11,495,016 | A/C | — | likely benign |
| rs4804163 | 19:11,496,792 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.