EBF2
EBF transcription factor 2
Summary
The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7465298 | 8:25,699,665 | A/G | upstream gene variant | — |
| rs3829011 | 8:25,701,661 | G/A | upstream gene variant | — |
| rs4074002 | 8:25,703,083 | C/T | intron variant | — |
| rs10866844 | 8:25,704,435 | T/A | intron variant | — |
| rs4620293 | 8:25,704,897 | G/T | — | — |
| rs4288384 | 8:25,705,058 | C/T | intron variant | — |
| rs3936202 | 8:25,705,257 | A/G | intron variant | — |
| rs12546901 | 8:25,706,096 | C/A | intron variant | — |
| rs11135895 | 8:25,706,115 | A/G | intron variant | — |
| rs6991952 | 8:25,707,412 | A/G | intron variant | — |
| rs10746560 | 8:25,707,778 | A/G | intron variant | — |
| rs12680481 | 8:25,707,859 | C/T | intron variant | — |
| rs762174178 | 8:25,708,121 | T/C | — | uncertain significance |
| rs772176552 | 8:25,708,230 | G/A | — | uncertain significance |
| rs4336620 | 8:25,708,509 | A/G | intron variant | — |
| rs4316162 | 8:25,708,838 | C/T | intron variant | — |
| rs12541705 | 8:25,709,710 | A/C | intron variant | — |
| rs10503776 | 8:25,709,869 | C/T | intron variant | — |
| rs751777838 | 8:25,715,858 | G/A | — | uncertain significance |
| rs746695218 | 8:25,715,934 | T/G | — | uncertain significance |
| rs779209613 | 8:25,715,988 | G/A | — | uncertain significance |
| rs6983815 | 8:25,717,620 | T/A | intron variant | — |
| rs11135896 | 8:25,718,296 | G/C | intron variant | — |
| rs2486499409 | 8:25,718,625 | T/G | — | uncertain significance |
| rs1262524148 | 8:25,718,649 | C/T | — | uncertain significance |
| rs267601873 | 8:25,718,682 | G/A | — | uncertain significance |
| rs1334451034 | 8:25,718,696 | C/T | — | uncertain significance |
| rs73553903 | 8:25,718,821 | T/C | — | benign |
| rs28454030 | 8:25,720,267 | C/T | — | benign |
| rs980768644 | 8:25,720,289 | T/C | — | uncertain significance |
| rs35335955 | 8:25,722,182 | T/C | intron variant | — |
| rs13263877 | 8:25,722,538 | C/T | intron variant | — |
| rs35422836 | 8:25,723,498 | G/C | — | — |
| rs11135898 | 8:25,723,954 | T/A | intron variant | — |
| rs34545411 | 8:25,724,983 | C/T | — | — |
| rs4490841 | 8:25,727,467 | C/T | intron variant | — |
| rs4490842 | 8:25,727,468 | C/T | intron variant | — |
| rs7824277 | 8:25,730,053 | A/T | — | — |
| rs6984017 | 8:25,732,287 | G/A | intron variant | — |
| rs79328154 | 8:25,734,395 | T/C | intron variant | — |
| rs12334871 | 8:25,736,236 | T/C | intron variant | — |
| rs12677091 | 8:25,737,469 | C/T | intron variant | — |
| rs10104310 | 8:25,737,600 | C/T | intron variant | — |
| rs10106488 | 8:25,737,812 | G/A | intron variant | — |
| rs4294188 | 8:25,738,649 | G/A | intron variant | — |
| rs4326391 | 8:25,739,205 | A/T | intron variant | — |
| rs4295670 | 8:25,739,361 | G/T | — | — |
| rs11135899 | 8:25,741,906 | A/G | intron variant | — |
| rs368351856 | 8:25,744,343 | C/T | — | uncertain significance |
| rs374534239 | 8:25,747,372 | G/T | — | uncertain significance |
| rs12678659 | 8:25,754,738 | T/A | — | — |
| rs4415324 | 8:25,756,256 | C/G | intron variant | — |
| rs7014899 | 8:25,756,804 | A/G | — | — |
| rs7826766 | 8:25,757,387 | C/A | — | — |
| rs4872373 | 8:25,758,767 | G/A | intron variant | — |
| rs4872374 | 8:25,758,814 | C/T | intron variant | — |
| rs4872375 | 8:25,758,874 | G/T | — | — |
| rs4242423 | 8:25,760,616 | A/T | — | — |
| rs6557868 | 8:25,761,106 | T/A | — | — |
| rs4871960 | 8:25,766,577 | T/G | — | — |
| rs11135902 | 8:25,766,836 | T/C | intron variant | — |
| rs10093175 | 8:25,767,275 | T/G | intron variant | — |
| rs11783373 | 8:25,767,801 | T/A | intron variant | — |
| rs884152 | 8:25,770,557 | G/C | — | — |
| rs7834102 | 8:25,778,838 | T/G | — | — |
| rs573470919 | 8:25,813,869 | C/T | — | — |
| rs7836584 | 8:25,838,421 | A/T | — | — |
| rs58293411 | 8:25,862,355 | G/A | intron variant | — |
| rs17818197 | 8:25,872,634 | A/C | — | — |
| rs1001372 | 8:25,887,580 | A/T | intron variant | — |
| rs10086575 | 8:25,888,110 | G/C | — | — |
| rs34726834 | 8:25,889,606 | C/T | intron variant | — |
| rs11135910 | 8:25,892,142 | C/T | intron variant | — |
| rs901178 | 8:25,894,275 | T/G | intron variant | — |
| rs757283514 | 8:25,897,554 | C/T | — | uncertain significance |
| rs2486704748 | 8:25,898,514 | T/A | — | uncertain significance |
| rs1001855163 | 8:25,899,682 | G/C | — | uncertain significance |
| rs761079691 | 8:25,899,721 | T/C | — | uncertain significance |
| rs773581473 | 8:25,902,267 | C/T | — | uncertain significance |
| rs2486713836 | 8:25,902,320 | A/C | — | uncertain significance |
| rs373437276 | 8:25,902,323 | G/A | — | uncertain significance |
| rs1238260580 | 8:25,902,336 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.