GATA4
GATA binding protein 4
Summary
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants637 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4840576 | 8:11,542,372 | G/C | — | — |
| rs372004083 | 8:11,560,787 | T/C | — | likely benign |
| rs769262495 | 8:11,560,864 | C/A | — | benign |
| rs115367741 | 8:11,561,226 | A/C | — | benign |
| rs899152479 | 8:11,561,359 | C/T | — | uncertain significance |
| rs560860578 | 8:11,561,401 | G/C | — | likely benign |
| rs892337662 | 8:11,561,415 | G/A | — | likely benign |
| rs111297459 | 8:11,561,476 | G/A | — | likely benign |
| rs28472428 | 8:11,561,481 | G/C | — | benign |
| rs61277615 | 8:11,561,728 | C/T | — | benign |
| rs73203482 | 8:11,561,818 | G/A | — | benign |
| rs77044774 | 8:11,562,404 | A/T | regulatory region variant | — |
| rs10088151 | 8:11,565,087 | A/C | — | benign |
| rs114658939 | 8:11,565,516 | C/T | — | likely benign |
| rs368418329 | 8:11,565,528 | G/T | — | likely benign |
| rs1446210727 | 8:11,565,828 | C/G | — | uncertain significance |
| rs374132087 | 8:11,565,829 | A/C | — | uncertain significance |
| rs1421266458 | 8:11,565,832 | G/A | — | uncertain significance |
| rs1247823780 | 8:11,565,833 | C/A | — | uncertain significance |
| rs55670878 | 8:11,565,834 | T/C | — | likely benign |
| rs55635838 | 8:11,565,836 | G/A | — | likely benign |
| rs899023750 | 8:11,565,840 | A/G | — | uncertain significance |
| rs1386678141 | 8:11,565,843 | G/T | — | uncertain significance |
| rs864321698 | 8:11,565,844 | C/A | missense variant | pathogenic |
| rs1324224105 | 8:11,565,845 | C/G | — | likely benign |
| rs864321699 | 8:11,565,846 | G/A | missense variant | pathogenic |
| rs864321703 | 8:11,565,848 | C/A | synonymous variant | pathogenic |
| rs1274085631 | 8:11,565,851 | C/A | — | uncertain significance |
| rs1350855665 | 8:11,565,852 | C/A | — | uncertain significance |
| rs1585594672 | 8:11,565,853 | A/C | — | uncertain significance |
| rs750597721 | 8:11,565,855 | G/C | — | uncertain significance |
| rs1327988791 | 8:11,565,857 | G/A | — | likely benign |
| rs996317979 | 8:11,565,862 | C/G | — | uncertain significance |
| rs1799990782 | 8:11,565,864 | C/T | — | uncertain significance |
| rs766466946 | 8:11,565,865 | C/A | — | uncertain significance |
| rs1295264082 | 8:11,565,866 | C/T | — | likely benign |
| rs1473142359 | 8:11,565,872 | C/T | — | likely benign |
| rs1799991762 | 8:11,565,875 | C/A | — | pathogenic |
| rs1139240 | 8:11,565,876 | G/A | — | uncertain significance |
| rs202213149 | 8:11,565,883 | G/T | — | uncertain significance |
| rs1403578989 | 8:11,565,884 | C/G | — | likely benign |
| rs2486778757 | 8:11,565,885 | G/T | — | uncertain significance |
| rs758117613 | 8:11,565,886 | G/T | — | uncertain significance |
| rs954460490 | 8:11,565,888 | C/T | — | uncertain significance |
| rs1411452741 | 8:11,565,890 | C/T | — | likely benign |
| rs777394438 | 8:11,565,891 | G/A | — | uncertain significance |
| rs746574040 | 8:11,565,893 | C/G | — | likely benign |
| rs1554488388 | 8:11,565,897 | T/G | — | uncertain significance |
| rs1406275331 | 8:11,565,903 | C/T | — | uncertain significance |
| rs534250566 | 8:11,565,904 | A/G | — | uncertain significance |
| rs549164979 | 8:11,565,905 | C/T | — | likely benign |
| rs1053092495 | 8:11,565,906 | G/A | — | conflicting classifications of pathogenicity |
| rs749821814 | 8:11,565,910 | C/T | — | uncertain significance |
| rs768982638 | 8:11,565,911 | G/A | — | likely benign |
| rs567891764 | 8:11,565,914 | C/A | — | likely benign |
| rs773545065 | 8:11,565,915 | G/A | — | uncertain significance |
| rs989115054 | 8:11,565,919 | C/T | — | uncertain significance |
| rs56166237 | 8:11,565,920 | G/T | — | likely benign |
| rs1390725079 | 8:11,565,921 | T/A | — | uncertain significance |
| rs1799996550 | 8:11,565,926 | G/T | — | likely benign |
| rs1431477414 | 8:11,565,927 | C/T | — | uncertain significance |
| rs1585595173 | 8:11,565,932 | C/A | — | likely benign |
| rs2130067685 | 8:11,565,937 | T/G | — | uncertain significance |
| rs968942677 | 8:11,565,939 | C/T | — | uncertain significance |
| rs980252090 | 8:11,565,945 | C/A | — | uncertain significance |
| rs766590532 | 8:11,565,946 | C/A | — | uncertain significance |
| rs387906770 | 8:11,565,948 | C/A | synonymous variant | likely benign |
| rs1563199849 | 8:11,565,950 | G/T | — | likely benign |
| rs2130067843 | 8:11,565,955 | C/T | — | uncertain significance |
| rs1297614525 | 8:11,565,956 | C/G | — | likely benign |
| rs773581495 | 8:11,565,963 | G/A | — | uncertain significance |
| rs1272999942 | 8:11,565,964 | T/G | — | uncertain significance |
| rs1799999337 | 8:11,565,969 | G/C | — | uncertain significance |
| rs570058215 | 8:11,565,970 | G/C | — | uncertain significance |
| rs1339102502 | 8:11,565,971 | C/A | — | likely benign |
| rs1799999722 | 8:11,565,972 | C/T | — | likely benign |
| rs104894074 | 8:11,565,976 | C/T | missense variant | pathogenic |
| rs2130068092 | 8:11,565,979 | A/T | — | uncertain significance |
| rs1258554563 | 8:11,565,980 | C/T | — | likely benign |
| rs1800000510 | 8:11,565,989 | C/A | — | likely benign |
| rs900532442 | 8:11,565,993 | G/A | — | uncertain significance |
| rs927342083 | 8:11,565,995 | C/A | — | likely benign |
| rs1183065957 | 8:11,565,996 | G/A | — | uncertain significance |
| rs1248717520 | 8:11,565,998 | G/A | — | likely benign |
| rs1451316561 | 8:11,566,000 | G/A | — | uncertain significance |
| rs1191358899 | 8:11,566,003 | C/T | — | uncertain significance |
| rs2486779519 | 8:11,566,004 | T/C | — | likely benign |
| rs1466381420 | 8:11,566,007 | G/A | — | likely benign |
| rs759522534 | 8:11,566,008 | T/G | — | uncertain significance |
| rs2486779553 | 8:11,566,009 | C/G | — | uncertain significance |
| rs2486779567 | 8:11,566,010 | C/T | — | likely benign |
| rs2486779574 | 8:11,566,011 | G/C | — | uncertain significance |
| rs1249347695 | 8:11,566,012 | G/A | — | likely pathogenic |
| rs1399618529 | 8:11,566,014 | G/A | — | uncertain significance |
| rs752600136 | 8:11,566,016 | C/T | — | likely benign |
| rs758170804 | 8:11,566,021 | C/T | — | uncertain significance |
| rs1800003368 | 8:11,566,025 | C/A | — | likely benign |
| rs1326304521 | 8:11,566,026 | G/A | — | uncertain significance |
| rs938776629 | 8:11,566,027 | G/T | — | uncertain significance |
| rs2486779742 | 8:11,566,033 | C/G | — | uncertain significance |
Showing 100 of 637 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.