RFX2
regulatory factor X2
Summary
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751954291 | 19:5,994,866 | G/A | — | uncertain significance |
| rs769353990 | 19:5,994,880 | C/T | — | uncertain significance |
| rs141415407 | 19:5,994,913 | C/T | — | likely benign |
| rs761381900 | 19:5,994,928 | G/A | — | uncertain significance |
| rs200247864 | 19:5,994,940 | C/T | — | uncertain significance |
| rs767725608 | 19:5,994,947 | C/T | — | uncertain significance |
| rs575841631 | 19:5,995,618 | C/T | — | uncertain significance |
| rs77201285 | 19:5,996,299 | G/A | regulatory region variant | — |
| rs142123022 | 19:5,996,893 | T/C | intron variant | — |
| rs75499120 | 19:5,997,116 | G/A | — | likely benign |
| rs2512345162 | 19:6,001,907 | G/A | — | uncertain significance |
| rs998933350 | 19:6,001,916 | C/A | — | uncertain significance |
| rs762714471 | 19:6,001,931 | G/A | — | uncertain significance |
| rs767084173 | 19:6,001,988 | C/T | — | uncertain significance |
| rs1321249455 | 19:6,002,764 | C/T | — | uncertain significance |
| rs151006536 | 19:6,002,808 | C/T | — | uncertain significance |
| rs763279781 | 19:6,002,847 | C/G | — | uncertain significance |
| rs192135098 | 19:6,003,714 | C/T | intron variant | — |
| rs769861701 | 19:6,004,291 | A/G | — | uncertain significance |
| rs2086545315 | 19:6,004,306 | G/A | — | uncertain significance |
| rs375765912 | 19:6,007,031 | G/A | — | uncertain significance |
| rs765945506 | 19:6,007,117 | G/C | — | uncertain significance |
| rs148161020 | 19:6,007,723 | C/T | — | uncertain significance |
| rs201227349 | 19:6,007,726 | C/G | — | uncertain significance |
| rs1345572661 | 19:6,007,747 | T/C | — | uncertain significance |
| rs1202065688 | 19:6,007,765 | G/C | — | uncertain significance |
| rs372942360 | 19:6,008,119 | C/T | — | uncertain significance |
| rs981390543 | 19:6,008,128 | G/A | — | uncertain significance |
| rs139113134 | 19:6,010,194 | G/A | — | uncertain significance |
| rs144879552 | 19:6,010,210 | C/T | — | likely benign |
| rs1055802802 | 19:6,010,221 | C/A | — | uncertain significance |
| rs202155693 | 19:6,010,222 | C/T | — | likely benign |
| rs775896111 | 19:6,013,034 | T/C | — | uncertain significance |
| rs768811405 | 19:6,013,042 | G/A | — | uncertain significance |
| rs762884348 | 19:6,013,057 | C/T | — | uncertain significance |
| rs573270091 | 19:6,016,157 | G/C | — | uncertain significance |
| rs927662582 | 19:6,016,237 | G/T | — | uncertain significance |
| rs141049264 | 19:6,021,327 | G/A | downstream gene variant | — |
| rs150435072 | 19:6,026,205 | G/A | — | uncertain significance |
| rs199570398 | 19:6,026,209 | T/C | — | uncertain significance |
| rs747867889 | 19:6,040,010 | G/A | — | uncertain significance |
| rs143838272 | 19:6,040,046 | C/A | — | likely benign |
| rs144698636 | 19:6,040,071 | C/T | — | likely benign |
| rs771562752 | 19:6,040,095 | C/T | — | uncertain significance |
| rs2512424558 | 19:6,040,115 | A/T | — | uncertain significance |
| rs150537865 | 19:6,040,160 | G/A | — | uncertain significance |
| rs143212551 | 19:6,040,212 | C/T | — | uncertain significance |
| rs2288846 | 19:6,042,059 | C/T | missense variant | — |
| rs200929323 | 19:6,042,074 | C/T | — | uncertain significance |
| rs755627032 | 19:6,042,125 | C/T | — | uncertain significance |
| rs2087154485 | 19:6,044,265 | T/C | — | uncertain significance |
| rs772009340 | 19:6,044,291 | C/A | — | uncertain significance |
| rs754756303 | 19:6,047,449 | G/A | — | uncertain significance |
| rs200561386 | 19:6,047,451 | C/T | — | benign |
| rs201485682 | 19:6,047,458 | C/T | — | uncertain significance |
| rs769588473 | 19:6,047,459 | G/C | — | uncertain significance |
| rs199616707 | 19:6,047,462 | G/C | — | uncertain significance |
| rs575115131 | 19:6,047,468 | C/T | — | uncertain significance |
| rs765256838 | 19:6,047,488 | C/T | — | uncertain significance |
| rs7246925 | 19:6,052,033 | T/C | intron variant | — |
| rs185752477 | 19:6,062,226 | C/T | regulatory region variant | — |
| rs11880706 | 19:6,080,482 | C/G | downstream gene variant | — |
| rs10405373 | 19:6,093,396 | A/T | intron variant | — |
| rs1259238984 | 19:6,104,391 | T/C | — | — |
| rs1318048165 | 19:6,104,393 | A/G | — | — |
| rs10402293 | 19:6,105,209 | A/G | upstream gene variant | — |
| rs10416027 | 19:6,107,028 | C/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.