IKZF3
IKAROS family zinc finger 3
Summary
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs907091 | 17:37,921,742 | C/T | regulatory region variant | — |
| rs754805856 | 17:37,922,086 | G/C | — | uncertain significance |
| rs907092 | 17:37,922,259 | G/A | synonymous variant | benign |
| rs1436946084 | 17:37,922,276 | T/C | — | likely benign |
| rs2544688009 | 17:37,922,291 | G/A | — | uncertain significance |
| rs201082358 | 17:37,922,295 | T/A | — | uncertain significance |
| rs779142309 | 17:37,922,386 | C/T | — | uncertain significance |
| rs2544689519 | 17:37,922,425 | C/G | — | uncertain significance |
| rs144257869 | 17:37,922,495 | C/T | — | uncertain significance |
| rs201230036 | 17:37,922,498 | G/C | — | uncertain significance |
| rs574227572 | 17:37,922,530 | C/T | — | uncertain significance |
| rs2544691410 | 17:37,922,591 | G/A | — | uncertain significance |
| rs115944615 | 17:37,922,622 | G/A | — | likely benign |
| rs867134650 | 17:37,922,664 | C/A | — | uncertain significance |
| rs767661308 | 17:37,922,737 | C/T | — | uncertain significance |
| rs112876941 | 17:37,922,804 | A/T | upstream gene variant | — |
| rs8072612 | 17:37,927,120 | A/G | intron variant | — |
| rs9901483 | 17:37,932,774 | T/A | intron variant | — |
| rs13380871 | 17:37,936,249 | T/G | — | — |
| rs12942330 | 17:37,939,839 | C/T | intron variant | — |
| rs202088212 | 17:37,944,547 | G/A | — | uncertain significance |
| rs1431869874 | 17:37,944,558 | T/C | — | uncertain significance |
| rs2143873917 | 17:37,947,786 | C/G | — | pathogenic |
| rs2544825860 | 17:37,947,791 | T/C | — | uncertain significance |
| rs114509391 | 17:37,947,793 | A/C | synonymous variant | — |
| rs2544832213 | 17:37,948,937 | C/T | — | uncertain significance |
| rs116631450 | 17:37,949,034 | C/T | — | uncertain significance |
| rs767118824 | 17:37,949,054 | A/T | — | uncertain significance |
| rs756582411 | 17:37,949,074 | T/G | — | uncertain significance |
| rs369340496 | 17:37,949,106 | C/T | — | uncertain significance |
| rs369652538 | 17:37,949,121 | T/C | — | uncertain significance |
| rs2544833764 | 17:37,949,123 | G/A | — | uncertain significance |
| rs9899345 | 17:37,954,758 | G/A | intron variant | — |
| rs34988504 | 17:37,957,632 | C/T | intron variant | — |
| rs9909593 | 17:37,970,149 | A/G | intron variant | — |
| rs12450323 | 17:37,972,708 | G/T | intron variant | — |
| rs147065162 | 17:37,975,673 | T/C | regulatory region variant | — |
| rs9303277 | 17:37,976,469 | C/T | intron variant | — |
| rs1294515863 | 17:37,985,646 | T/C | — | uncertain significance |
| rs141227245 | 17:37,985,699 | T/C | — | uncertain significance |
| rs1287408512 | 17:37,985,730 | C/G | — | uncertain significance |
| rs539420917 | 17:37,985,731 | C/T | — | likely benign |
| rs61749874 | 17:37,985,732 | G/A | — | likely benign |
| rs3816470 | 17:37,985,801 | G/A | — | benign |
| rs9916765 | 17:38,005,595 | T/C | intron variant | — |
| rs8071789 | 17:38,006,333 | C/T | intron variant | — |
| rs143123127 | 17:38,007,190 | G/T | — | — |
| rs9635726 | 17:38,020,141 | C/A | — | — |
| rs1453559 | 17:38,020,419 | T/C | regulatory region variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.