ATF6B
activating transcription factor 6 beta
Summary
The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8111 | 6:32,083,175 | C/T | upstream gene variant | — |
| rs8283 | 6:32,083,300 | A/G | upstream gene variant | — |
| rs773375518 | 6:32,083,541 | T/A | — | uncertain significance |
| rs758883617 | 6:32,083,568 | G/T | — | uncertain significance |
| rs753618773 | 6:32,083,730 | C/T | — | uncertain significance |
| rs147955878 | 6:32,084,337 | T/A | — | likely benign |
| rs774702849 | 6:32,084,515 | C/T | — | uncertain significance |
| rs373179783 | 6:32,084,518 | C/T | — | uncertain significance |
| rs199610969 | 6:32,084,564 | G/A | — | uncertain significance |
| rs372966678 | 6:32,084,872 | G/A | — | likely benign |
| rs200717869 | 6:32,085,092 | C/T | — | benign |
| rs1353318076 | 6:32,085,155 | A/G | — | uncertain significance |
| rs767963787 | 6:32,085,171 | C/T | — | uncertain significance |
| rs204890 | 6:32,085,598 | C/T | upstream gene variant | — |
| rs773465509 | 6:32,085,663 | G/A | — | likely benign |
| rs1251902044 | 6:32,085,693 | C/T | — | likely benign |
| rs2483928914 | 6:32,085,697 | G/T | — | uncertain significance |
| rs1185572692 | 6:32,085,709 | C/T | — | uncertain significance |
| rs1179719370 | 6:32,085,742 | G/C | — | uncertain significance |
| rs142351949 | 6:32,085,795 | G/A | — | uncertain significance |
| rs780930386 | 6:32,085,811 | T/C | — | uncertain significance |
| rs1376759658 | 6:32,086,878 | C/T | — | uncertain significance |
| rs202159690 | 6:32,087,609 | C/G | — | uncertain significance |
| rs2483941840 | 6:32,087,648 | T/G | — | uncertain significance |
| rs555984618 | 6:32,087,688 | T/G | — | uncertain significance |
| rs541457745 | 6:32,088,656 | G/A | — | uncertain significance |
| rs1031205049 | 6:32,088,777 | T/C | — | uncertain significance |
| rs2228628 | 6:32,088,854 | G/A | synonymous variant | — |
| rs144354976 | 6:32,092,625 | T/G | downstream gene variant | — |
| rs760440016 | 6:32,093,902 | T/C | — | uncertain significance |
| rs759475542 | 6:32,093,921 | C/T | — | uncertain significance |
| rs1449143012 | 6:32,093,935 | G/T | — | uncertain significance |
| rs2483979675 | 6:32,094,017 | C/T | — | uncertain significance |
| rs204893 | 6:32,094,593 | T/C | downstream gene variant | — |
| rs569240811 | 6:32,095,255 | A/G | — | likely benign |
| rs2483989563 | 6:32,095,285 | A/G | — | likely benign |
| rs746985418 | 6:32,095,455 | T/A | — | uncertain significance |
| rs17201623 | 6:32,095,465 | G/A | — | uncertain significance |
| rs1270988225 | 6:32,095,471 | G/C | — | uncertain significance |
| rs572464548 | 6:32,095,900 | G/A | — | likely benign |
| rs776058318 | 6:32,095,917 | C/A | — | uncertain significance |
| rs751434077 | 6:32,095,954 | C/T | — | uncertain significance |
| rs1216348455 | 6:32,095,980 | G/A | — | uncertain significance |
| rs41268905 | 6:32,097,611 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.