UBE4B
ubiquitination factor E4B
Summary
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1570748637 | 1:10,093,761 | G/T | — | likely benign |
| rs187031332 | 1:10,113,828 | G/A | downstream gene variant | — |
| rs1218690250 | 1:10,132,153 | C/T | — | uncertain significance |
| rs575482388 | 1:10,132,203 | G/A | — | uncertain significance |
| rs757274612 | 1:10,132,241 | G/A | — | uncertain significance |
| rs4333851 | 1:10,146,179 | G/A | intron variant | — |
| rs147138653 | 1:10,155,522 | T/G | — | uncertain significance |
| rs775888771 | 1:10,155,567 | G/C | — | uncertain significance |
| rs78519671 | 1:10,161,163 | A/C | — | benign |
| rs41280790 | 1:10,161,264 | G/A | — | likely benign |
| rs189262553 | 1:10,161,265 | A/G | — | likely benign |
| rs1396475092 | 1:10,163,038 | G/C | — | uncertain significance |
| rs146544433 | 1:10,163,148 | A/G | — | uncertain significance |
| rs765367588 | 1:10,165,580 | C/G | — | uncertain significance |
| rs752009916 | 1:10,165,612 | A/T | — | uncertain significance |
| rs370526193 | 1:10,165,627 | A/T | — | uncertain significance |
| rs867051886 | 1:10,165,628 | T/C | — | uncertain significance |
| rs1366169996 | 1:10,165,784 | G/T | — | uncertain significance |
| rs199643842 | 1:10,166,317 | C/T | — | uncertain significance |
| rs772153110 | 1:10,166,338 | G/A | — | uncertain significance |
| rs2522742983 | 1:10,166,376 | A/G | — | uncertain significance |
| rs755292165 | 1:10,166,428 | C/T | — | uncertain significance |
| rs201736832 | 1:10,166,467 | C/T | — | uncertain significance |
| rs979260168 | 1:10,166,496 | C/T | — | uncertain significance |
| rs755996153 | 1:10,166,502 | C/A | — | uncertain significance |
| rs769331364 | 1:10,166,505 | C/G | — | uncertain significance |
| rs571542206 | 1:10,166,517 | A/G | — | uncertain significance |
| rs539367551 | 1:10,166,556 | A/T | — | uncertain significance |
| rs780456251 | 1:10,166,605 | C/T | — | uncertain significance |
| rs374799748 | 1:10,166,625 | C/G | — | uncertain significance |
| rs187585530 | 1:10,167,425 | G/A | intron variant | — |
| rs1645331836 | 1:10,177,577 | A/T | — | uncertain significance |
| rs2522811832 | 1:10,177,581 | T/C | — | uncertain significance |
| rs143511579 | 1:10,177,642 | A/G | — | uncertain significance |
| rs983877167 | 1:10,177,656 | A/G | — | uncertain significance |
| rs145426187 | 1:10,179,562 | C/T | — | benign |
| rs78118411 | 1:10,179,615 | C/T | — | benign |
| rs376349016 | 1:10,186,910 | G/C | — | uncertain significance |
| rs1188352432 | 1:10,186,928 | C/T | — | uncertain significance |
| rs752124501 | 1:10,189,457 | G/A | — | uncertain significance |
| rs2522896370 | 1:10,190,826 | T/C | — | likely benign |
| rs1645580656 | 1:10,190,861 | A/C | — | uncertain significance |
| rs150774269 | 1:10,195,079 | A/G | — | uncertain significance |
| rs370876093 | 1:10,195,146 | C/T | — | uncertain significance |
| rs138056371 | 1:10,195,185 | A/G | — | benign |
| rs780330455 | 1:10,195,197 | G/A | — | uncertain significance |
| rs759661609 | 1:10,197,217 | T/G | — | uncertain significance |
| rs755700547 | 1:10,197,242 | G/A | — | uncertain significance |
| rs777281743 | 1:10,209,274 | A/G | — | uncertain significance |
| rs201222800 | 1:10,211,395 | A/C | — | uncertain significance |
| rs1191534489 | 1:10,211,439 | G/C | — | uncertain significance |
| rs975197152 | 1:10,212,091 | C/T | — | — |
| rs61782937 | 1:10,223,618 | T/C | downstream gene variant | — |
| rs147961171 | 1:10,228,220 | G/C | — | benign |
| rs753434706 | 1:10,228,243 | C/G | — | uncertain significance |
| rs2523119409 | 1:10,228,302 | C/T | — | uncertain significance |
| rs11121525 | 1:10,234,529 | C/T | intron variant | — |
| rs7540431 | 1:10,235,512 | G/T | — | — |
| rs762500508 | 1:10,238,798 | G/A | — | uncertain significance |
| rs143909066 | 1:10,238,832 | C/T | — | uncertain significance |
| rs757353202 | 1:10,238,837 | G/A | — | uncertain significance |
| rs756559591 | 1:10,238,846 | G/A | — | uncertain significance |
| rs2523178797 | 1:10,239,476 | C/T | — | uncertain significance |
| rs1288840633 | 1:10,239,502 | C/A | — | uncertain significance |
| rs1264482027 | 1:10,239,510 | G/A | — | uncertain significance |
| rs146686475 | 1:10,239,569 | C/G | — | uncertain significance |
| rs139108939 | 1:10,239,586 | C/T | — | benign |
| rs2523179342 | 1:10,239,587 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.