LOXL2
lysyl oxidase like 2
Summary
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141482265 | 8:23,155,045 | A/G | regulatory region variant | — |
| rs529227702 | 8:23,155,580 | T/G | — | uncertain significance |
| rs1803080292 | 8:23,156,359 | G/C | — | uncertain significance |
| rs778113411 | 8:23,156,365 | C/T | — | uncertain significance |
| rs772997430 | 8:23,156,391 | G/A | — | uncertain significance |
| rs1391873833 | 8:23,156,408 | A/T | — | uncertain significance |
| rs148111808 | 8:23,156,435 | A/G | — | uncertain significance |
| rs761853382 | 8:23,159,580 | A/G | — | uncertain significance |
| rs971614864 | 8:23,159,596 | T/C | — | uncertain significance |
| rs200187619 | 8:23,159,687 | G/T | — | likely benign |
| rs745403715 | 8:23,167,206 | C/T | — | uncertain significance |
| rs2486541167 | 8:23,167,223 | G/A | — | uncertain significance |
| rs199843603 | 8:23,167,226 | C/T | — | uncertain significance |
| rs372124781 | 8:23,167,256 | T/C | — | uncertain significance |
| rs376481583 | 8:23,167,280 | C/T | — | uncertain significance |
| rs1306951198 | 8:23,167,304 | T/A | — | uncertain significance |
| rs376680910 | 8:23,167,308 | C/T | — | uncertain significance |
| rs751110642 | 8:23,167,388 | T/G | — | uncertain significance |
| rs140945797 | 8:23,168,558 | T/C | intron variant | — |
| rs4469461 | 8:23,169,475 | A/G | intron variant | — |
| rs7825605 | 8:23,169,841 | T/C | — | — |
| rs546513713 | 8:23,171,330 | A/G | — | — |
| rs202243137 | 8:23,171,492 | G/A | — | — |
| rs4288380 | 8:23,173,314 | A/G | intron variant | — |
| rs11987443 | 8:23,174,177 | A/G | regulatory region variant | — |
| rs1245915356 | 8:23,174,474 | C/T | — | uncertain significance |
| rs771258066 | 8:23,174,525 | C/T | — | uncertain significance |
| rs760460697 | 8:23,174,533 | C/T | — | uncertain significance |
| rs202166801 | 8:23,174,534 | G/A | — | uncertain significance |
| rs1339251849 | 8:23,174,581 | A/G | — | uncertain significance |
| rs2486552548 | 8:23,174,623 | G/C | — | uncertain significance |
| rs560196062 | 8:23,177,415 | C/A | — | uncertain significance |
| rs747308435 | 8:23,177,447 | A/G | — | uncertain significance |
| rs1803467577 | 8:23,177,454 | C/G | — | uncertain significance |
| rs1258365529 | 8:23,177,475 | C/G | — | uncertain significance |
| rs550659352 | 8:23,177,553 | C/T | — | uncertain significance |
| rs539983434 | 8:23,179,696 | C/T | — | uncertain significance |
| rs144194678 | 8:23,179,697 | G/C | — | uncertain significance |
| rs2486562264 | 8:23,179,773 | T/C | — | uncertain significance |
| rs201086267 | 8:23,179,789 | C/T | — | uncertain significance |
| rs199848147 | 8:23,179,790 | G/C | — | uncertain significance |
| rs979124622 | 8:23,185,906 | C/T | — | uncertain significance |
| rs1260497261 | 8:23,185,933 | C/T | — | uncertain significance |
| rs753598006 | 8:23,185,958 | C/T | — | uncertain significance |
| rs780199200 | 8:23,186,032 | C/T | — | uncertain significance |
| rs567518641 | 8:23,186,042 | C/T | — | uncertain significance |
| rs376928331 | 8:23,186,069 | C/G | — | uncertain significance |
| rs549956089 | 8:23,188,569 | C/A | — | — |
| rs1411742604 | 8:23,190,942 | G/A | — | uncertain significance |
| rs768376724 | 8:23,190,946 | G/T | — | uncertain significance |
| rs752798008 | 8:23,190,993 | G/A | — | uncertain significance |
| rs376096328 | 8:23,191,060 | T/G | — | uncertain significance |
| rs139417842 | 8:23,191,110 | C/T | — | uncertain significance |
| rs759907827 | 8:23,198,517 | G/C | — | uncertain significance |
| rs140106871 | 8:23,198,533 | C/G | — | uncertain significance |
| rs1307918190 | 8:23,198,549 | C/T | — | uncertain significance |
| rs143787010 | 8:23,198,565 | C/T | — | likely benign |
| rs767616969 | 8:23,198,580 | G/A | — | uncertain significance |
| rs541784342 | 8:23,198,621 | C/G | — | uncertain significance |
| rs998180830 | 8:23,198,650 | G/T | — | uncertain significance |
| rs1212954688 | 8:23,198,656 | G/A | — | uncertain significance |
| rs143674437 | 8:23,198,662 | G/A | — | uncertain significance |
| rs201211677 | 8:23,217,622 | G/A | — | uncertain significance |
| rs3736019 | 8:23,217,656 | C/T | — | uncertain significance |
| rs761724543 | 8:23,217,674 | C/T | — | uncertain significance |
| rs3736020 | 8:23,217,723 | T/G | — | benign |
| rs78055779 | 8:23,217,753 | G/A | — | benign |
| rs142220945 | 8:23,225,558 | C/T | — | uncertain significance |
| rs760373510 | 8:23,225,663 | T/G | — | uncertain significance |
| rs199929386 | 8:23,225,699 | T/A | — | uncertain significance |
| rs138503568 | 8:23,225,708 | C/A | — | benign |
| rs368172373 | 8:23,225,710 | T/G | — | uncertain significance |
| rs1804444861 | 8:23,225,801 | G/C | — | uncertain significance |
| rs201980255 | 8:23,225,803 | G/C | — | uncertain significance |
| rs6557662 | 8:23,230,898 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.