IKZF1
IKAROS family zinc finger 1
Summary
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]
Known Variants277 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11765436 | 7:50,344,077 | T/A | regulatory region variant | — |
| rs11761922 | 7:50,344,132 | G/C | — | benign |
| rs1373678478 | 7:50,344,415 | G/A | — | uncertain significance |
| rs7781977 | 7:50,346,134 | C/T | regulatory region variant | — |
| rs539123094 | 7:50,346,238 | C/T | — | — |
| rs184710845 | 7:50,346,798 | T/G | regulatory region variant | — |
| rs6583437 | 7:50,350,267 | G/A | regulatory region variant | — |
| rs7797255 | 7:50,351,604 | A/G | intron variant | — |
| rs7804185 | 7:50,353,144 | T/C | intron variant | — |
| rs6421315 | 7:50,355,207 | G/T | — | — |
| rs2536357171 | 7:50,358,659 | T/C | — | uncertain significance |
| rs1584438980 | 7:50,358,664 | G/A | — | uncertain significance |
| rs374267123 | 7:50,358,672 | G/A | — | benign |
| rs964046541 | 7:50,358,683 | T/C | — | uncertain significance |
| rs1480100906 | 7:50,358,690 | A/G | — | likely benign |
| rs2153363477 | 7:50,358,702 | G/A | — | uncertain significance |
| rs73348111 | 7:50,364,291 | T/C | intron variant | — |
| rs754363805 | 7:50,367,218 | T/A | — | likely benign |
| rs2536611692 | 7:50,367,220 | T/C | — | uncertain significance |
| rs1562748776 | 7:50,367,243 | G/A | — | uncertain significance |
| rs754640737 | 7:50,367,245 | C/A | — | uncertain significance |
| rs931548912 | 7:50,367,248 | C/A | — | uncertain significance |
| rs752227855 | 7:50,367,249 | C/A | — | uncertain significance |
| rs1795401260 | 7:50,367,255 | G/A | — | uncertain significance |
| rs777664112 | 7:50,367,256 | C/T | — | likely benign |
| rs1245618829 | 7:50,367,257 | G/A | — | conflicting classifications of pathogenicity |
| rs919149752 | 7:50,367,267 | A/T | — | uncertain significance |
| rs1284126054 | 7:50,367,271 | G/A | — | likely benign |
| rs749271573 | 7:50,367,272 | G/A | — | uncertain significance |
| rs369941285 | 7:50,367,274 | C/T | — | likely benign |
| rs778910457 | 7:50,367,275 | G/A | — | uncertain significance |
| rs375037109 | 7:50,367,284 | A/G | — | uncertain significance |
| rs775793261 | 7:50,367,288 | C/T | — | uncertain significance |
| rs760835849 | 7:50,367,289 | G/A | — | likely benign |
| rs61732861 | 7:50,367,292 | C/A | — | likely benign |
| rs776947333 | 7:50,367,295 | C/T | — | likely benign |
| rs762352967 | 7:50,367,304 | C/T | — | likely benign |
| rs2536618370 | 7:50,367,308 | A/T | — | uncertain significance |
| rs751092583 | 7:50,367,315 | C/T | — | uncertain significance |
| rs373934387 | 7:50,367,316 | G/A | — | likely benign |
| rs2536619095 | 7:50,367,318 | G/A | — | uncertain significance |
| rs1378576386 | 7:50,367,321 | G/T | — | uncertain significance |
| rs2536620265 | 7:50,367,334 | C/A | — | uncertain significance |
| rs1255711584 | 7:50,367,339 | G/A | — | uncertain significance |
| rs200992647 | 7:50,367,349 | C/T | — | likely benign |
| rs369417059 | 7:50,367,350 | G/A | — | conflicting classifications of pathogenicity |
| rs1177415232 | 7:50,367,357 | A/C | — | uncertain significance |
| rs1408305292 | 7:50,367,366 | C/T | — | uncertain significance |
| rs373192449 | 7:50,367,370 | C/T | — | benign |
| rs998375461 | 7:50,367,371 | G/A | — | uncertain significance |
| rs778906916 | 7:50,367,372 | G/C | — | uncertain significance |
| rs140547015 | 7:50,423,574 | G/A | regulatory region variant | — |
| rs12718597 | 7:50,428,428 | C/T | — | — |
| rs12718598 | 7:50,428,445 | T/C | regulatory region variant | — |
| rs1805227150 | 7:50,429,212 | A/G | — | uncertain significance |
| rs567730888 | 7:50,430,680 | C/T | — | — |
| rs11766800 | 7:50,435,617 | A/T | — | benign |
| rs1398036160 | 7:50,435,719 | A/T | — | uncertain significance |
| rs536336375 | 7:50,435,776 | C/T | — | uncertain significance |
| rs12669559 | 7:50,435,777 | T/G | — | benign |
| rs749089586 | 7:50,435,830 | C/T | — | uncertain significance |
| rs117111762 | 7:50,435,899 | A/G | — | uncertain significance |
| rs76112582 | 7:50,435,903 | C/A | — | benign |
| rs182128033 | 7:50,435,936 | C/T | — | likely benign |
| rs541802498 | 7:50,435,956 | C/T | — | conflicting classifications of pathogenicity |
| rs148745500 | 7:50,435,957 | G/A | — | likely benign |
| rs916797844 | 7:50,435,964 | T/C | — | uncertain significance |
| rs922355666 | 7:50,436,031 | G/A | — | uncertain significance |
| rs10899750 | 7:50,436,033 | A/G | — | benign |
| rs12718730 | 7:50,436,828 | T/A | intron variant | — |
| rs7780012 | 7:50,438,720 | G/T | intron variant | — |
| rs78015841 | 7:50,439,415 | T/A | intron variant | — |
| rs75742253 | 7:50,442,301 | G/A | intron variant | — |
| rs117849269 | 7:50,443,431 | A/C | regulatory region variant | — |
| rs113125091 | 7:50,444,025 | C/T | — | benign |
| rs74412507 | 7:50,444,040 | G/A | — | benign |
| rs766296379 | 7:50,444,232 | C/G | — | uncertain significance |
| rs1442508767 | 7:50,444,261 | A/G | — | uncertain significance |
| rs144637662 | 7:50,444,276 | G/A | — | conflicting classifications of pathogenicity |
| rs778251001 | 7:50,444,311 | G/A | — | uncertain significance |
| rs2153469119 | 7:50,444,317 | C/T | — | pathogenic |
| rs1427077431 | 7:50,444,318 | G/A | — | uncertain significance |
| rs2538094765 | 7:50,444,323 | C/T | — | uncertain significance |
| rs1032782282 | 7:50,444,329 | G/C | — | uncertain significance |
| rs746327678 | 7:50,444,334 | G/A | — | likely benign |
| rs2538096964 | 7:50,444,341 | A/T | — | likely pathogenic |
| rs942938472 | 7:50,444,350 | G/T | — | uncertain significance |
| rs2538098282 | 7:50,444,353 | T/C | — | uncertain significance |
| rs1810372257 | 7:50,444,359 | A/G | — | uncertain significance |
| rs764780164 | 7:50,444,385 | G/A | — | likely benign |
| rs549930725 | 7:50,444,387 | G/A | — | uncertain significance |
| rs1584887968 | 7:50,444,390 | T/A | — | uncertain significance |
| rs185632810 | 7:50,444,412 | C/T | — | likely benign |
| rs2538104155 | 7:50,444,415 | A/C | — | likely benign |
| rs759433474 | 7:50,444,419 | C/T | — | likely benign |
| rs1810390889 | 7:50,444,426 | G/C | — | likely pathogenic |
| rs2153470067 | 7:50,444,439 | G/A | — | uncertain significance |
| rs1810394908 | 7:50,444,452 | G/A | — | uncertain significance |
| rs764847531 | 7:50,444,468 | T/C | — | uncertain significance |
| rs2153470248 | 7:50,444,487 | C/T | — | uncertain significance |
Showing 100 of 277 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.