GATA2
GATA binding protein 2
Summary
This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Known Variants1,008 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2713579 | 3:128,198,104 | G/A | — | benign |
| rs886057921 | 3:128,198,318 | T/C | — | uncertain significance |
| rs886057922 | 3:128,198,319 | A/G | — | uncertain significance |
| rs2068597449 | 3:128,198,340 | T/C | — | uncertain significance |
| rs905132525 | 3:128,198,444 | C/A | — | uncertain significance |
| rs142582404 | 3:128,198,633 | T/C | — | benign |
| rs779730117 | 3:128,198,689 | C/A | — | uncertain significance |
| rs776209943 | 3:128,198,716 | T/C | — | uncertain significance |
| rs886057923 | 3:128,198,718 | C/T | — | uncertain significance |
| rs115799885 | 3:128,198,782 | C/T | — | benign |
| rs977325610 | 3:128,198,860 | C/A | — | uncertain significance |
| rs1349296825 | 3:128,198,874 | A/C | — | uncertain significance |
| rs886057924 | 3:128,198,978 | T/A | — | uncertain significance |
| rs45463895 | 3:128,198,980 | A/T | — | benign |
| rs73203415 | 3:128,199,147 | T/C | — | benign |
| rs45437196 | 3:128,199,165 | G/A | — | likely benign |
| rs758714164 | 3:128,199,281 | C/T | — | uncertain significance |
| rs868031897 | 3:128,199,292 | G/A | — | uncertain significance |
| rs45463801 | 3:128,199,316 | A/G | — | benign |
| rs116559910 | 3:128,199,354 | C/T | — | benign |
| rs3803 | 3:128,199,380 | G/A | 3 prime UTR variant | benign |
| rs2068612595 | 3:128,199,405 | C/T | — | uncertain significance |
| rs77448517 | 3:128,199,435 | G/A | — | benign |
| rs557984557 | 3:128,199,442 | C/T | — | uncertain significance |
| rs2068613223 | 3:128,199,444 | C/T | — | uncertain significance |
| rs45479594 | 3:128,199,452 | A/G | — | benign |
| rs1324129609 | 3:128,199,483 | G/A | — | uncertain significance |
| rs938268244 | 3:128,199,510 | G/A | — | uncertain significance |
| rs10934857 | 3:128,199,662 | G/A | 3 prime UTR variant | benign |
| rs545460836 | 3:128,199,663 | G/C | — | likely benign |
| rs112947643 | 3:128,199,672 | G/A | — | uncertain significance |
| rs45598538 | 3:128,199,679 | G/A | — | likely benign |
| rs373617135 | 3:128,199,688 | C/T | — | uncertain significance |
| rs184208259 | 3:128,199,744 | G/A | — | likely benign |
| rs886057926 | 3:128,199,761 | C/T | — | uncertain significance |
| rs529564408 | 3:128,199,762 | G/T | — | benign |
| rs79350619 | 3:128,199,768 | G/A | — | benign |
| rs886057927 | 3:128,199,778 | T/C | — | uncertain significance |
| rs886057928 | 3:128,199,789 | G/A | — | uncertain significance |
| rs374495352 | 3:128,199,830 | G/A | — | uncertain significance |
| rs201159232 | 3:128,199,838 | C/T | — | benign |
| rs750895467 | 3:128,199,849 | G/A | — | uncertain significance |
| rs2472917977 | 3:128,199,863 | T/C | — | uncertain significance |
| rs2068619272 | 3:128,199,869 | A/G | — | uncertain significance |
| rs1180428559 | 3:128,199,871 | G/A | — | likely benign |
| rs2068619351 | 3:128,199,872 | G/A | — | uncertain significance |
| rs754297885 | 3:128,199,874 | G/A | — | likely benign |
| rs2068619463 | 3:128,199,875 | G/A | — | uncertain significance |
| rs2107667621 | 3:128,199,876 | T/C | — | uncertain significance |
| rs1553770387 | 3:128,199,877 | C/T | — | likely benign |
| rs2068619532 | 3:128,199,878 | A/G | — | uncertain significance |
| rs1161135105 | 3:128,199,879 | C/T | — | uncertain significance |
| rs1429596189 | 3:128,199,882 | T/A | — | uncertain significance |
| rs1228557730 | 3:128,199,884 | C/G | — | uncertain significance |
| rs2068619751 | 3:128,199,888 | A/G | — | uncertain significance |
| rs376805544 | 3:128,199,889 | C/T | — | conflicting classifications of pathogenicity |
| rs779338723 | 3:128,199,890 | G/A | — | conflicting classifications of pathogenicity |
| rs1328529481 | 3:128,199,892 | G/A | — | likely benign |
| rs2068619997 | 3:128,199,894 | G/A | — | uncertain significance |
| rs878855169 | 3:128,199,895 | G/A | — | likely benign |
| rs1449742251 | 3:128,199,896 | G/C | — | uncertain significance |
| rs772050518 | 3:128,199,898 | G/T | — | uncertain significance |
| rs2068620221 | 3:128,199,900 | G/A | — | uncertain significance |
| rs2107667663 | 3:128,199,901 | G/A | — | likely benign |
| rs2107667668 | 3:128,199,902 | C/T | — | uncertain significance |
| rs777726701 | 3:128,199,903 | C/T | — | conflicting classifications of pathogenicity |
| rs534807053 | 3:128,199,904 | G/A | — | likely benign |
| rs2472918228 | 3:128,199,907 | G/A | — | likely benign |
| rs1559984558 | 3:128,199,911 | A/G | — | uncertain significance |
| rs2068620480 | 3:128,199,912 | G/A | — | uncertain significance |
| rs770949428 | 3:128,199,914 | C/A | — | uncertain significance |
| rs1060503833 | 3:128,199,919 | G/A | — | likely benign |
| rs1559984575 | 3:128,199,920 | G/T | — | uncertain significance |
| rs1200504281 | 3:128,199,922 | G/A | — | likely benign |
| rs1238679450 | 3:128,199,924 | G/A | — | uncertain significance |
| rs1033366779 | 3:128,199,925 | G/A | — | likely benign |
| rs369407958 | 3:128,199,929 | A/T | — | uncertain significance |
| rs2107667727 | 3:128,199,931 | G/A | — | likely benign |
| rs2107667728 | 3:128,199,932 | G/A | — | uncertain significance |
| rs1169516070 | 3:128,199,933 | G/A | — | uncertain significance |
| rs763539605 | 3:128,199,934 | C/G | — | likely benign |
| rs139415862 | 3:128,199,935 | G/A | — | uncertain significance |
| rs2472918429 | 3:128,199,936 | T/A | — | uncertain significance |
| rs569990126 | 3:128,199,937 | C/T | — | likely benign |
| rs372912472 | 3:128,199,938 | G/A | — | conflicting classifications of pathogenicity |
| rs2068621421 | 3:128,199,939 | G/A | — | uncertain significance |
| rs755408952 | 3:128,199,942 | T/G | — | uncertain significance |
| rs2068621583 | 3:128,199,944 | G/T | — | uncertain significance |
| rs774297463 | 3:128,199,945 | G/A | — | uncertain significance |
| rs878855168 | 3:128,199,946 | C/T | — | likely benign |
| rs2107667762 | 3:128,199,948 | G/A | — | likely benign |
| rs1576744250 | 3:128,199,949 | G/A | — | conflicting classifications of pathogenicity |
| rs2107667768 | 3:128,199,950 | A/G | — | uncertain significance |
| rs2472918538 | 3:128,199,953 | T/G | — | uncertain significance |
| rs2068621767 | 3:128,199,955 | T/A | — | likely benign |
| rs370164300 | 3:128,199,957 | C/T | — | conflicting classifications of pathogenicity |
| rs150052821 | 3:128,199,958 | G/T | — | conflicting classifications of pathogenicity |
| rs1338194519 | 3:128,199,964 | G/T | — | likely pathogenic |
| rs1576744275 | 3:128,199,966 | T/G | — | conflicting classifications of pathogenicity |
| rs2107667798 | 3:128,199,967 | G/T | — | uncertain significance |
Showing 100 of 1,008 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.