TBC1D5
TBC1 domain family member 5
Summary
Enables AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in several cellular components, including Atg1/ULK1 kinase complex; autophagosome; and cytoplasmic vesicle membrane. Part of retromer complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758051645 | 3:17,202,505 | C/T | — | uncertain significance |
| rs200832725 | 3:17,202,706 | C/T | — | uncertain significance |
| rs774391519 | 3:17,208,302 | C/T | — | uncertain significance |
| rs139210370 | 3:17,208,341 | G/T | — | likely benign |
| rs146791549 | 3:17,208,352 | C/G | — | uncertain significance |
| rs369942333 | 3:17,208,366 | C/T | — | uncertain significance |
| rs565377480 | 3:17,209,278 | T/C | — | uncertain significance |
| rs149215404 | 3:17,226,601 | C/G | — | likely benign |
| rs143365571 | 3:17,226,606 | T/C | — | uncertain significance |
| rs994977268 | 3:17,226,639 | A/T | — | uncertain significance |
| rs2547430968 | 3:17,226,672 | A/G | — | uncertain significance |
| rs750035725 | 3:17,255,800 | A/T | — | uncertain significance |
| rs139603342 | 3:17,255,827 | C/T | — | likely benign |
| rs2548306525 | 3:17,275,196 | C/G | — | uncertain significance |
| rs756711557 | 3:17,275,242 | C/T | — | uncertain significance |
| rs2548377191 | 3:17,279,670 | C/T | — | uncertain significance |
| rs923387937 | 3:17,279,726 | T/C | — | uncertain significance |
| rs2733481 | 3:17,320,397 | G/A | intron variant | — |
| rs2549421538 | 3:17,333,403 | A/G | — | uncertain significance |
| rs1027053515 | 3:17,333,410 | C/T | — | uncertain significance |
| rs774947500 | 3:17,333,467 | G/C | — | uncertain significance |
| rs375749909 | 3:17,349,615 | C/T | — | uncertain significance |
| rs9870741 | 3:17,407,930 | T/A | — | — |
| rs201769045 | 3:17,413,575 | T/C | — | uncertain significance |
| rs141851070 | 3:17,415,967 | T/C | — | uncertain significance |
| rs547394280 | 3:17,416,010 | C/G | — | uncertain significance |
| rs752286873 | 3:17,425,468 | T/G | — | uncertain significance |
| rs752300025 | 3:17,444,698 | T/C | — | uncertain significance |
| rs2093725969 | 3:17,446,235 | A/G | — | uncertain significance |
| rs34457748 | 3:17,446,447 | G/A | — | likely benign |
| rs7628126 | 3:17,520,888 | C/G | — | likely benign |
| rs765918621 | 3:17,550,014 | G/C | — | uncertain significance |
| rs183836288 | 3:17,664,509 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.