UBE4A
ubiquitination factor E4A
Summary
This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777255001 | 11:118,235,805 | C/A | — | uncertain significance |
| rs770887713 | 11:118,239,384 | G/A | — | uncertain significance |
| rs2496943725 | 11:118,239,441 | C/T | — | likely pathogenic |
| rs549548620 | 11:118,239,847 | C/G | — | — |
| rs201069795 | 11:118,240,151 | G/C | — | uncertain significance |
| rs73613940 | 11:118,240,160 | G/C | — | likely benign |
| rs574621310 | 11:118,240,177 | G/A | — | uncertain significance |
| rs2134089305 | 11:118,240,226 | G/A | — | pathogenic |
| rs502514 | 11:118,241,995 | T/C | intron variant | — |
| rs778883154 | 11:118,242,296 | C/T | — | uncertain significance |
| rs73613946 | 11:118,242,339 | T/A | — | likely benign |
| rs2496953066 | 11:118,243,286 | A/G | — | uncertain significance |
| rs748926976 | 11:118,243,291 | C/T | — | pathogenic |
| rs774711250 | 11:118,243,300 | C/T | — | uncertain significance |
| rs376040016 | 11:118,243,374 | G/C | — | uncertain significance |
| rs149871374 | 11:118,243,401 | C/G | — | likely benign |
| rs1225376416 | 11:118,243,818 | G/C | — | uncertain significance |
| rs144396349 | 11:118,243,912 | G/C | — | uncertain significance |
| rs1326409864 | 11:118,243,965 | A/G | — | uncertain significance |
| rs753747653 | 11:118,243,968 | C/A | — | uncertain significance |
| rs367923306 | 11:118,243,997 | G/A | — | uncertain significance |
| rs2496956060 | 11:118,244,290 | A/G | — | uncertain significance |
| rs1252028588 | 11:118,244,356 | T/A | — | uncertain significance |
| rs61900929 | 11:118,245,440 | C/T | intron variant | — |
| rs2496959575 | 11:118,245,665 | C/G | — | uncertain significance |
| rs782476130 | 11:118,245,677 | A/T | — | uncertain significance |
| rs782049962 | 11:118,245,717 | A/T | — | uncertain significance |
| rs1347828119 | 11:118,245,719 | G/A | — | uncertain significance |
| rs1475889596 | 11:118,245,778 | G/A | — | uncertain significance |
| rs2496960083 | 11:118,245,785 | T/G | — | uncertain significance |
| rs2496960313 | 11:118,245,842 | T/A | — | uncertain significance |
| rs1555125188 | 11:118,245,912 | A/G | — | uncertain significance |
| rs145336832 | 11:118,245,918 | G/A | — | uncertain significance |
| rs2496960634 | 11:118,245,930 | A/G | — | uncertain significance |
| rs78134506 | 11:118,248,987 | G/A | — | — |
| rs781916872 | 11:118,250,167 | T/A | — | uncertain significance |
| rs544649598 | 11:118,250,246 | G/T | — | uncertain significance |
| rs782354863 | 11:118,250,255 | A/G | — | uncertain significance |
| rs782373590 | 11:118,250,261 | C/T | — | uncertain significance |
| rs145630004 | 11:118,250,262 | G/A | — | uncertain significance |
| rs143573037 | 11:118,250,371 | A/G | — | likely benign |
| rs137928264 | 11:118,250,436 | A/G | — | uncertain significance |
| rs1433710811 | 11:118,252,147 | C/T | — | uncertain significance |
| rs1555126497 | 11:118,253,313 | T/A | — | uncertain significance |
| rs2496981615 | 11:118,253,366 | T/C | — | uncertain significance |
| rs150691820 | 11:118,253,408 | G/A | — | uncertain significance |
| rs1407586457 | 11:118,253,414 | G/A | — | uncertain significance |
| rs781809517 | 11:118,253,479 | A/G | — | uncertain significance |
| rs782174605 | 11:118,255,570 | G/C | — | uncertain significance |
| rs140104100 | 11:118,257,193 | G/A | — | uncertain significance |
| rs2497007291 | 11:118,261,389 | G/A | — | uncertain significance |
| rs369004915 | 11:118,261,437 | C/T | — | uncertain significance |
| rs142299294 | 11:118,261,438 | A/G | — | benign |
| rs782048641 | 11:118,263,525 | A/T | — | uncertain significance |
| rs1555129727 | 11:118,267,111 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.