BAG3
BAG cochaperone 3
Summary
BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
Known Variants853 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140579074 | 10:121,410,645 | T/C | — | benign |
| rs11199059 | 10:121,410,670 | T/C | — | benign |
| rs186893240 | 10:121,410,829 | C/T | — | benign |
| rs987450541 | 10:121,410,869 | C/T | — | uncertain significance |
| rs544280047 | 10:121,410,894 | A/C | — | conflicting classifications of pathogenicity |
| rs557535632 | 10:121,410,895 | T/A | — | conflicting classifications of pathogenicity |
| rs866276705 | 10:121,410,903 | C/T | — | uncertain significance |
| rs192502283 | 10:121,410,904 | G/C | — | conflicting classifications of pathogenicity |
| rs144814361 | 10:121,410,917 | C/T | — | conflicting classifications of pathogenicity |
| rs529609887 | 10:121,410,980 | C/T | — | likely benign |
| rs963964101 | 10:121,411,033 | C/G | — | uncertain significance |
| rs543269835 | 10:121,411,060 | G/T | — | uncertain significance |
| rs111750619 | 10:121,411,093 | G/A | — | conflicting classifications of pathogenicity |
| rs565184410 | 10:121,411,098 | G/A | — | benign |
| rs879223257 | 10:121,411,101 | G/T | — | uncertain significance |
| rs913687992 | 10:121,411,102 | G/A | — | uncertain significance |
| rs527696524 | 10:121,411,138 | C/T | — | benign |
| rs754210695 | 10:121,411,170 | G/A | — | conflicting classifications of pathogenicity |
| rs200388926 | 10:121,411,171 | G/A | — | conflicting classifications of pathogenicity |
| rs727502894 | 10:121,411,184 | C/T | — | conflicting classifications of pathogenicity |
| rs1846841562 | 10:121,411,186 | G/T | — | uncertain significance |
| rs1589619813 | 10:121,411,188 | A/C | — | uncertain significance |
| rs1846841605 | 10:121,411,189 | T/G | — | uncertain significance |
| rs1396002893 | 10:121,411,192 | G/A | — | uncertain significance |
| rs956429406 | 10:121,411,194 | G/T | — | uncertain significance |
| rs777752849 | 10:121,411,200 | A/G | — | conflicting classifications of pathogenicity |
| rs2493979455 | 10:121,411,201 | C/T | — | uncertain significance |
| rs1371817400 | 10:121,411,202 | C/G | — | likely benign |
| rs745806982 | 10:121,411,205 | C/G | — | uncertain significance |
| rs1308142179 | 10:121,411,206 | T/C | — | uncertain significance |
| rs1473083093 | 10:121,411,207 | C/A | — | likely pathogenic |
| rs1846841906 | 10:121,411,208 | G/A | — | likely benign |
| rs2134050454 | 10:121,411,209 | C/T | — | uncertain significance |
| rs137965903 | 10:121,411,212 | A/G | — | likely benign |
| rs2134050458 | 10:121,411,214 | G/C | — | uncertain significance |
| rs779929078 | 10:121,411,215 | A/G | — | conflicting classifications of pathogenicity |
| rs1275338906 | 10:121,411,217 | G/A | — | uncertain significance |
| rs1468932645 | 10:121,411,218 | C/A | — | uncertain significance |
| rs2134050474 | 10:121,411,219 | A/T | — | uncertain significance |
| rs1846842133 | 10:121,411,220 | G/A | — | likely benign |
| rs367917821 | 10:121,411,221 | G/A | — | conflicting classifications of pathogenicity |
| rs1232169723 | 10:121,411,223 | G/A | — | likely benign |
| rs1479607977 | 10:121,411,224 | G/C | — | uncertain significance |
| rs2493979569 | 10:121,411,225 | C/T | — | uncertain significance |
| rs2134050488 | 10:121,411,228 | C/T | — | uncertain significance |
| rs1474784659 | 10:121,411,233 | A/G | — | uncertain significance |
| rs727502895 | 10:121,411,236 | G/C | — | conflicting classifications of pathogenicity |
| rs1846842565 | 10:121,411,237 | G/C | — | uncertain significance |
| rs2134050513 | 10:121,411,239 | G/A | — | uncertain significance |
| rs866659159 | 10:121,411,241 | C/T | — | likely benign |
| rs727502896 | 10:121,411,242 | C/A | — | uncertain significance |
| rs1846842832 | 10:121,411,245 | G/A | — | uncertain significance |
| rs1327618290 | 10:121,411,248 | C/G | — | uncertain significance |
| rs1589619881 | 10:121,411,249 | C/G | — | uncertain significance |
| rs747846089 | 10:121,411,254 | C/T | — | conflicting classifications of pathogenicity |
| rs1846843077 | 10:121,411,255 | C/T | — | uncertain significance |
| rs2493979713 | 10:121,411,256 | C/G | — | likely benign |
| rs2134050540 | 10:121,411,257 | C/T | — | uncertain significance |
| rs771609568 | 10:121,411,258 | C/G | — | uncertain significance |
| rs964684316 | 10:121,411,259 | C/A | — | likely benign |
| rs142391650 | 10:121,411,261 | G/A | — | uncertain significance |
| rs772652580 | 10:121,411,262 | A/C | — | likely benign |
| rs1846843335 | 10:121,411,263 | T/G | — | uncertain significance |
| rs1554875409 | 10:121,411,264 | G/A | — | pathogenic |
| rs535344112 | 10:121,411,265 | G/A | — | pathogenic |
| rs2493979773 | 10:121,411,271 | C/G | — | uncertain significance |
| rs766796091 | 10:121,411,275 | A/G | — | uncertain significance |
| rs2493979791 | 10:121,411,278 | G/C | — | uncertain significance |
| rs759915726 | 10:121,411,282 | C/T | — | uncertain significance |
| rs372083121 | 10:121,411,283 | G/T | — | likely benign |
| rs2134050569 | 10:121,411,286 | G/C | — | uncertain significance |
| rs1387616851 | 10:121,411,288 | C/T | — | uncertain significance |
| rs145934400 | 10:121,411,289 | C/G | — | likely benign |
| rs200072558 | 10:121,411,290 | G/T | — | uncertain significance |
| rs2493979847 | 10:121,411,291 | G/A | — | uncertain significance |
| rs1057523771 | 10:121,411,292 | C/G | — | likely benign |
| rs1846844070 | 10:121,411,295 | G/A | — | pathogenic |
| rs764177199 | 10:121,411,296 | C/T | — | uncertain significance |
| rs397516880 | 10:121,411,298 | C/T | — | likely benign |
| rs727504929 | 10:121,411,301 | C/T | — | likely benign |
| rs2493979913 | 10:121,411,302 | T/A | — | uncertain significance |
| rs1472915271 | 10:121,411,303 | T/C | — | uncertain significance |
| rs2134050608 | 10:121,411,304 | C/T | — | likely benign |
| rs2134050615 | 10:121,411,309 | A/G | — | uncertain significance |
| rs1846844504 | 10:121,411,312 | A/G | — | uncertain significance |
| rs2493980004 | 10:121,411,313 | C/G | — | uncertain significance |
| rs537615906 | 10:121,411,314 | A/G | — | uncertain significance |
| rs778921699 | 10:121,411,316 | C/T | — | likely benign |
| rs2134050640 | 10:121,411,319 | C/T | — | likely benign |
| rs747820097 | 10:121,411,320 | C/T | — | conflicting classifications of pathogenicity |
| rs771633629 | 10:121,411,323 | A/T | — | uncertain significance |
| rs1349893372 | 10:121,411,324 | C/T | — | uncertain significance |
| rs777267711 | 10:121,411,325 | C/T | — | likely benign |
| rs794728980 | 10:121,411,329 | A/C | — | uncertain significance |
| rs1229267488 | 10:121,411,330 | C/A | — | uncertain significance |
| rs2493980100 | 10:121,411,331 | G/C | — | likely benign |
| rs1564767043 | 10:121,411,333 | G/A | — | pathogenic |
| rs2493980111 | 10:121,411,334 | G/A | — | pathogenic |
| rs2493980114 | 10:121,411,336 | A/G | — | conflicting classifications of pathogenicity |
| rs746527768 | 10:121,411,338 | G/A | — | uncertain significance |
Showing 100 of 853 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.