LEFTY2
left-right determination factor 2
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
Known Variants143 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747349216 | 1:226,124,411 | A/G | — | uncertain significance |
| rs543240181 | 1:226,124,570 | G/C | — | uncertain significance |
| rs6697182 | 1:226,124,645 | A/C | — | likely benign |
| rs114492272 | 1:226,124,824 | G/C | — | likely benign |
| rs80180076 | 1:226,124,844 | T/A | — | uncertain significance |
| rs565668518 | 1:226,124,862 | C/T | — | uncertain significance |
| rs886046057 | 1:226,124,881 | G/A | — | uncertain significance |
| rs6662343 | 1:226,124,912 | G/A | — | likely benign |
| rs1436525376 | 1:226,124,991 | A/C | — | uncertain significance |
| rs1378472233 | 1:226,125,077 | A/T | — | uncertain significance |
| rs375696864 | 1:226,125,105 | C/T | — | uncertain significance |
| rs143844031 | 1:226,125,165 | G/A | — | likely benign |
| rs746343846 | 1:226,125,167 | G/A | — | uncertain significance |
| rs561486852 | 1:226,125,168 | C/A | — | likely benign |
| rs151034245 | 1:226,125,169 | G/A | — | conflicting classifications of pathogenicity |
| rs778447375 | 1:226,125,171 | C/T | — | benign |
| rs543472211 | 1:226,125,176 | C/T | — | uncertain significance |
| rs766277265 | 1:226,125,178 | G/A | — | uncertain significance |
| rs1441011945 | 1:226,125,195 | C/A | — | uncertain significance |
| rs1373851430 | 1:226,125,201 | C/A | — | uncertain significance |
| rs747778361 | 1:226,125,206 | T/G | — | uncertain significance |
| rs112610798 | 1:226,125,207 | G/A | — | benign |
| rs777139964 | 1:226,125,212 | G/T | missense variant | pathogenic |
| rs121909126 | 1:226,125,217 | C/T | missense variant | uncertain significance |
| rs749823804 | 1:226,125,235 | G/C | — | uncertain significance |
| rs2102681121 | 1:226,125,245 | C/T | — | uncertain significance |
| rs767847665 | 1:226,125,248 | C/T | — | uncertain significance |
| rs61731738 | 1:226,125,260 | C/T | — | benign |
| rs78074131 | 1:226,125,273 | C/T | — | likely benign |
| rs529950916 | 1:226,125,274 | G/A | — | uncertain significance |
| rs756750444 | 1:226,125,285 | C/T | — | likely benign |
| rs373198678 | 1:226,125,290 | C/T | — | uncertain significance |
| rs121909125 | 1:226,125,302 | G/A | stop gained | uncertain significance |
| rs773437742 | 1:226,125,304 | G/A | — | uncertain significance |
| rs61731739 | 1:226,125,339 | C/T | — | benign |
| rs200500383 | 1:226,125,340 | G/A | — | uncertain significance |
| rs1672186780 | 1:226,125,352 | C/T | — | uncertain significance |
| rs762760884 | 1:226,125,355 | G/A | — | uncertain significance |
| rs780669060 | 1:226,125,363 | A/T | — | uncertain significance |
| rs750002080 | 1:226,125,365 | A/C | — | uncertain significance |
| rs536871035 | 1:226,125,369 | G/A | — | benign |
| rs772445393 | 1:226,125,384 | C/T | — | likely benign |
| rs2295418 | 1:226,125,385 | G/A | missense variant | benign |
| rs571804276 | 1:226,125,392 | C/T | — | uncertain significance |
| rs539025487 | 1:226,125,407 | T/C | — | conflicting classifications of pathogenicity |
| rs1257327332 | 1:226,125,414 | C/T | — | likely benign |
| rs751370455 | 1:226,125,432 | A/G | — | conflicting classifications of pathogenicity |
| rs755576793 | 1:226,125,449 | G/A | — | uncertain significance |
| rs554256494 | 1:226,125,451 | C/T | — | uncertain significance |
| rs545519108 | 1:226,125,452 | A/G | — | uncertain significance |
| rs758883303 | 1:226,125,454 | C/T | — | uncertain significance |
| rs1455571524 | 1:226,125,467 | C/T | — | uncertain significance |
| rs149969900 | 1:226,125,468 | G/A | — | benign |
| rs143245498 | 1:226,125,469 | G/A | — | uncertain significance |
| rs769963460 | 1:226,125,472 | A/G | — | uncertain significance |
| rs775761211 | 1:226,125,482 | C/T | — | uncertain significance |
| rs1576155524 | 1:226,125,483 | A/G | — | likely benign |
| rs749235622 | 1:226,125,488 | C/T | — | uncertain significance |
| rs141625209 | 1:226,125,494 | C/T | — | likely benign |
| rs376643564 | 1:226,125,495 | G/A | — | likely benign |
| rs576554454 | 1:226,125,513 | G/A | — | conflicting classifications of pathogenicity |
| rs772813596 | 1:226,125,522 | G/A | — | likely benign |
| rs3007716 | 1:226,125,617 | G/A | — | benign |
| rs146772130 | 1:226,126,728 | C/T | — | benign |
| rs774109979 | 1:226,127,061 | C/G | — | uncertain significance |
| rs748117464 | 1:226,127,071 | T/C | — | uncertain significance |
| rs1463573301 | 1:226,127,084 | G/T | — | uncertain significance |
| rs372720820 | 1:226,127,129 | C/A | — | likely benign |
| rs780082623 | 1:226,127,159 | G/A | — | likely benign |
| rs1576156776 | 1:226,127,162 | C/G | — | likely benign |
| rs779092914 | 1:226,127,167 | G/A | — | likely benign |
| rs748059986 | 1:226,127,168 | C/T | — | likely benign |
| rs889810672 | 1:226,127,170 | G/A | — | uncertain significance |
| rs746743976 | 1:226,127,177 | A/G | — | likely benign |
| rs1672248473 | 1:226,127,200 | G/C | — | uncertain significance |
| rs761074083 | 1:226,127,227 | T/A | — | uncertain significance |
| rs752703165 | 1:226,127,242 | A/C | — | uncertain significance |
| rs746976495 | 1:226,127,268 | G/A | — | uncertain significance |
| rs1024178424 | 1:226,127,285 | G/A | — | likely benign |
| rs530184482 | 1:226,127,317 | A/G | — | likely benign |
| rs752934263 | 1:226,127,319 | G/C | — | likely benign |
| rs74578461 | 1:226,127,443 | G/C | — | benign |
| rs1375892898 | 1:226,127,459 | G/A | — | uncertain significance |
| rs780037300 | 1:226,127,461 | G/A | — | likely benign |
| rs1672262961 | 1:226,127,466 | T/G | — | uncertain significance |
| rs1339736807 | 1:226,127,467 | G/A | — | likely benign |
| rs2465081744 | 1:226,127,469 | G/A | — | uncertain significance |
| rs188858500 | 1:226,127,479 | G/A | — | benign |
| rs1448022427 | 1:226,127,490 | C/A | — | uncertain significance |
| rs2102683275 | 1:226,127,500 | G/A | — | likely benign |
| rs746398866 | 1:226,127,510 | T/C | — | uncertain significance |
| rs429477 | 1:226,127,528 | T/C | — | benign |
| rs886046058 | 1:226,127,529 | G/C | — | uncertain significance |
| rs1205230623 | 1:226,127,533 | G/C | — | uncertain significance |
| rs1260832644 | 1:226,127,548 | C/T | — | likely benign |
| rs754829336 | 1:226,127,553 | C/T | — | uncertain significance |
| rs575338007 | 1:226,127,564 | A/C | — | uncertain significance |
| rs757892012 | 1:226,127,578 | G/A | — | likely benign |
| rs951676207 | 1:226,127,581 | C/G | — | likely benign |
| rs777195213 | 1:226,127,582 | G/C | — | conflicting classifications of pathogenicity |
Showing 100 of 143 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.