ATAD3B
ATPase family AAA domain containing 3B
Summary
The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Known Variants90 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774886357 | 1:1,407,301 | G/A | — | uncertain significance |
| rs1317378381 | 1:1,407,307 | G/A | — | uncertain significance |
| rs948002957 | 1:1,407,311 | C/T | — | uncertain significance |
| rs750737097 | 1:1,407,317 | C/A | — | uncertain significance |
| rs2523826432 | 1:1,407,326 | C/T | — | uncertain significance |
| rs766445790 | 1:1,407,346 | G/A | — | uncertain significance |
| rs867615092 | 1:1,407,424 | G/T | — | uncertain significance |
| rs2523827403 | 1:1,407,439 | G/C | — | uncertain significance |
| rs757224727 | 1:1,407,443 | A/T | — | uncertain significance |
| rs941093789 | 1:1,407,461 | A/G | — | uncertain significance |
| rs1272515675 | 1:1,407,462 | G/C | — | uncertain significance |
| rs1639353517 | 1:1,407,464 | A/G | — | uncertain significance |
| rs146343349 | 1:1,412,659 | G/T | — | benign |
| rs1040781138 | 1:1,412,697 | G/T | — | uncertain significance |
| rs763195547 | 1:1,412,710 | G/A | — | uncertain significance |
| rs540782479 | 1:1,412,723 | A/G | — | likely benign |
| rs1438393834 | 1:1,414,039 | G/A | — | uncertain significance |
| rs1237950603 | 1:1,414,066 | C/T | — | uncertain significance |
| rs200050752 | 1:1,414,070 | C/T | missense variant | — |
| rs773225375 | 1:1,414,102 | G/A | — | uncertain significance |
| rs1639731886 | 1:1,414,105 | G/A | — | uncertain significance |
| rs769648987 | 1:1,414,109 | C/A | — | uncertain significance |
| rs2523883789 | 1:1,414,474 | C/T | — | uncertain significance |
| rs192308564 | 1:1,416,236 | C/G | — | benign |
| rs1302624120 | 1:1,416,257 | A/G | — | uncertain significance |
| rs367561578 | 1:1,416,284 | A/G | — | uncertain significance |
| rs766563399 | 1:1,417,523 | G/A | — | uncertain significance |
| rs747464654 | 1:1,417,574 | A/G | — | likely benign |
| rs767552850 | 1:1,417,583 | C/T | — | uncertain significance |
| rs778410435 | 1:1,417,592 | G/C | — | uncertain significance |
| rs200889111 | 1:1,417,596 | A/G | — | uncertain significance |
| rs146907250 | 1:1,417,598 | G/C | — | uncertain significance |
| rs1557800915 | 1:1,417,604 | C/T | — | uncertain significance |
| rs374994479 | 1:1,417,626 | G/A | — | uncertain significance |
| rs368728418 | 1:1,417,637 | C/T | — | uncertain significance |
| rs746295128 | 1:1,417,647 | C/T | — | uncertain significance |
| rs143114169 | 1:1,417,662 | A/G | — | likely benign |
| rs532582112 | 1:1,417,667 | G/T | — | uncertain significance |
| rs141143061 | 1:1,417,927 | C/T | — | conflicting classifications of pathogenicity |
| rs766091128 | 1:1,420,422 | C/T | — | likely benign |
| rs146192785 | 1:1,420,463 | G/A | — | uncertain significance |
| rs200026807 | 1:1,420,466 | T/A | — | likely benign |
| rs759068482 | 1:1,420,468 | A/G | — | uncertain significance |
| rs770794816 | 1:1,420,543 | C/T | — | uncertain significance |
| rs771517187 | 1:1,421,167 | C/G | — | uncertain significance |
| rs138300243 | 1:1,421,169 | G/T | — | uncertain significance |
| rs141667597 | 1:1,421,195 | G/A | — | uncertain significance |
| rs144745858 | 1:1,421,539 | C/G | — | uncertain significance |
| rs1557807620 | 1:1,421,550 | C/T | — | uncertain significance |
| rs748039793 | 1:1,421,565 | C/T | — | uncertain significance |
| rs548467926 | 1:1,421,595 | G/A | — | uncertain significance |
| rs752026914 | 1:1,421,602 | C/T | — | uncertain significance |
| rs2523963325 | 1:1,421,921 | C/T | — | uncertain significance |
| rs757157792 | 1:1,421,930 | G/A | — | uncertain significance |
| rs1159569322 | 1:1,421,938 | C/G | — | uncertain significance |
| rs1405046189 | 1:1,421,948 | G/A | — | uncertain significance |
| rs779902355 | 1:1,421,952 | A/G | — | uncertain significance |
| rs201713686 | 1:1,422,045 | G/A | — | uncertain significance |
| rs750391230 | 1:1,422,047 | G/A | — | uncertain significance |
| rs2523976661 | 1:1,423,293 | C/T | — | uncertain significance |
| rs1271469297 | 1:1,424,590 | A/T | — | uncertain significance |
| rs371083367 | 1:1,424,591 | T/G | — | uncertain significance |
| rs2523988795 | 1:1,424,594 | G/A | — | uncertain significance |
| rs767321626 | 1:1,424,647 | A/C | — | uncertain significance |
| rs755889854 | 1:1,425,651 | T/C | — | uncertain significance |
| rs144490908 | 1:1,425,696 | G/A | — | uncertain significance |
| rs531223290 | 1:1,425,704 | G/A | — | uncertain significance |
| rs778227786 | 1:1,425,714 | A/G | — | uncertain significance |
| rs367740674 | 1:1,425,746 | C/T | — | uncertain significance |
| rs1222640570 | 1:1,425,944 | C/T | — | uncertain significance |
| rs989484460 | 1:1,425,981 | G/A | — | uncertain significance |
| rs150684719 | 1:1,425,992 | G/A | — | uncertain significance |
| rs765627363 | 1:1,425,995 | C/T | — | uncertain significance |
| rs369202621 | 1:1,426,033 | G/T | — | uncertain significance |
| rs748819961 | 1:1,430,883 | A/G | — | likely benign |
| rs748534195 | 1:1,430,888 | C/T | — | likely benign |
| rs759632847 | 1:1,430,907 | A/G | — | uncertain significance |
| rs766021436 | 1:1,430,919 | T/G | — | uncertain significance |
| rs148810475 | 1:1,430,921 | T/G | — | conflicting classifications of pathogenicity |
| rs576276666 | 1:1,430,947 | G/C | — | uncertain significance |
| rs781304793 | 1:1,430,977 | G/A | — | uncertain significance |
| rs1216750068 | 1:1,430,986 | G/A | — | uncertain significance |
| rs749399131 | 1:1,431,017 | A/C | — | likely benign |
| rs372995030 | 1:1,431,049 | C/T | — | uncertain significance |
| rs150201453 | 1:1,431,066 | T/C | — | likely benign |
| rs553799027 | 1:1,431,157 | G/C | — | uncertain significance |
| rs140441570 | 1:1,431,163 | G/A | — | benign |
| rs9792879 | 1:1,431,165 | C/T | — | benign |
| rs146505120 | 1:1,431,173 | C/T | — | benign |
| rs182318530 | 1:1,433,138 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.