TXLNG
taxilin gamma
Summary
This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs977386355 | X:16,804,623 | G/T | — | uncertain significance |
| rs7888119 | X:16,813,128 | C/T | intron variant | — |
| rs201213408 | X:16,836,706 | G/A | — | uncertain significance |
| rs2518461896 | X:16,836,769 | C/G | — | uncertain significance |
| rs1928830004 | X:16,836,806 | G/A | — | uncertain significance |
| rs763395243 | X:16,836,848 | G/C | — | uncertain significance |
| rs2518462081 | X:16,836,865 | G/A | — | likely benign |
| rs1291665896 | X:16,836,984 | C/A | — | uncertain significance |
| rs377443501 | X:16,838,310 | C/G | — | uncertain significance |
| rs62586587 | X:16,844,831 | G/C | — | — |
| rs763577003 | X:16,846,278 | T/C | — | uncertain significance |
| rs1456092161 | X:16,847,757 | A/G | — | uncertain significance |
| rs2518473619 | X:16,847,864 | C/G | — | uncertain significance |
| rs1178433124 | X:16,850,750 | T/C | — | uncertain significance |
| rs769513453 | X:16,850,791 | G/T | — | uncertain significance |
| rs371717188 | X:16,850,848 | C/G | — | uncertain significance |
| rs3747367 | X:16,852,327 | A/C | intron variant | — |
| rs1010601125 | X:16,852,419 | C/T | — | uncertain significance |
| rs989737735 | X:16,855,732 | A/G | — | uncertain significance |
| rs1305978537 | X:16,855,785 | A/G | — | uncertain significance |
| rs142922936 | X:16,859,581 | C/G | — | uncertain significance |
| rs1485387317 | X:16,859,648 | A/G | — | uncertain significance |
| rs146909764 | X:16,859,649 | T/C | — | likely benign |
| rs34744750 | X:16,859,829 | A/C | — | benign |
| rs138029791 | X:16,859,861 | C/A | — | uncertain significance |
| rs761862450 | X:16,859,863 | G/C | — | uncertain significance |
| rs200307631 | X:16,859,880 | G/T | — | likely benign |
| rs5969750 | X:16,861,590 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.