PITX2

paired like homeodomain 2

Summary

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants178 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17288036154:111,538,585T/G—uncertain significance
rs1859255334:111,538,594T/C—uncertain significance
rs8860590024:111,538,670T/C—uncertain significance
rs8860590034:111,538,709A/G—uncertain significance
rs1883498214:111,538,759A/G—uncertain significance
rs759112644:111,538,810C/T—likely benign
rs65335264:111,538,827G/Aupstream gene variantbenign
rs13017853584:111,538,841G/A—uncertain significance
rs8860590054:111,538,911C/G—uncertain significance
rs5512096624:111,538,941T/C—conflicting classifications of pathogenicity
rs8860590064:111,539,017T/G—uncertain significance
rs5675176764:111,539,105T/A—uncertain significance
rs17288304754:111,539,108C/T—uncertain significance
rs7650401424:111,539,162A/T—uncertain significance
rs7525531024:111,539,174T/G—uncertain significance
rs24766488264:111,539,298C/T—uncertain significance
rs5717583064:111,539,315C/T—uncertain significance
rs17288423904:111,539,327G/T—uncertain significance
rs14901273584:111,539,329C/T—likely benign
rs7607901394:111,539,340C/T—uncertain significance
rs11846032924:111,539,354A/C—uncertain significance
rs1394011874:111,539,394G/A—conflicting classifications of pathogenicity
rs1481918514:111,539,437C/T—likely benign
rs7787791054:111,539,440C/T—likely benign
rs3712384554:111,539,444T/A—uncertain significance
rs10575194894:111,539,449A/Tstop gainedpathogenic
rs1453555814:111,539,461C/A—likely benign
rs10575194884:111,539,471——pathogenic
rs1468079944:111,539,528C/T—uncertain significance
rs13368880154:111,539,559T/C—uncertain significance
rs7469086804:111,539,561C/T—uncertain significance
rs7483912684:111,539,575C/T—uncertain significance
rs7600183494:111,539,600G/C—uncertain significance
rs7635397674:111,539,605C/G—uncertain significance
rs1411763944:111,539,617T/A—conflicting classifications of pathogenicity
rs7613789704:111,539,622G/A—likely benign
rs24766522104:111,539,623G/A—likely benign
rs8931398594:111,539,625G/T—uncertain significance
rs1381638924:111,539,637T/C—conflicting classifications of pathogenicity
rs359463644:111,539,638A/C—likely benign
rs21104317864:111,539,664T/A—likely benign
rs7494524844:111,539,668T/G—likely benign
rs1939208304:111,539,676C/T—uncertain significance
rs771447434:111,539,694C/T—likely benign
rs1048938604:111,539,698C/Tstop gainedpathogenic
rs24766566264:111,539,699C/T—pathogenic
rs24766567324:111,539,705T/C—uncertain significance
rs15784465444:111,539,722G/C—pathogenic
rs9517107424:111,539,734G/C—pathogenic
rs17288744294:111,539,739G/A—uncertain significance
rs7526170074:111,539,761C/A—likely benign
rs7561967864:111,539,767G/A—likely benign
rs10575194864:111,539,823C/G—uncertain significance
rs1048938594:111,539,825C/Gmissense variantpathogenic
rs10575194854:111,539,826G/A—likely pathogenic
rs7694614764:111,539,827A/T—likely benign
rs24766580994:111,539,828C/G—pathogenic
rs24766581164:111,539,831T/C—uncertain significance
rs3879068104:111,539,835T/Cmissense variantpathogenic
rs24766581474:111,539,838A/G—likely pathogenic
rs24766581614:111,539,839C/A—pathogenic
rs7728000954:111,539,840C/G—pathogenic
rs24766582144:111,539,845C/T—pathogenic
rs15539225834:111,539,846T/A—pathogenic
rs7623490194:111,539,851G/A—uncertain significance
rs11981520644:111,539,855T/C—pathogenic
rs560755074:111,539,946C/T—likely benign
rs1435976544:111,540,115A/G—likely benign
rs13226681394:111,540,127G/T—uncertain significance
rs1468503354:111,542,095G/A—likely benign
rs22787834:111,542,124G/A—benign
rs22787824:111,542,154G/A—benign
rs15605900944:111,542,315C/G—pathogenic
rs15784507284:111,542,318A/C—pathogenic
rs17289989054:111,542,319C/T—pathogenic
rs1219092484:111,542,322G/Amissense variantpathogenic
rs1219092494:111,542,325C/Gmissense variantpathogenic
rs25297726414:111,542,340G/C—uncertain significance
rs17290004794:111,542,342T/C—uncertain significance
rs25297726804:111,542,347C/T—pathogenic
rs17290009764:111,542,348C/T—pathogenic
rs21104356454:111,542,355C/G—pathogenic
rs1048938614:111,542,366C/Tmissense variantpathogenic
rs1048938584:111,542,370T/Gmissense variantpathogenic
rs10575194844:111,542,381G/Amissense variantpathogenic
rs1048938624:111,542,387C/Tmissense variantpathogenic
rs17290036694:111,542,399A/G—likely pathogenic
rs1048938574:111,542,411A/Tmissense variantpathogenic
rs10518874:111,542,415C/A—pathogenic
rs25297730494:111,542,423T/C—likely pathogenic
rs15539229014:111,542,424G/A—pathogenic
rs25297730994:111,542,435A/G—likely pathogenic
rs17290058554:111,542,442T/G—uncertain significance
rs21104357424:111,542,445G/A—pathogenic
rs7683862574:111,542,449C/A—uncertain significance
rs1492885604:111,542,458C/T—conflicting classifications of pathogenicity
rs289364094:111,542,459C/Tmissense variant—
rs12315050784:111,542,474G/A—uncertain significance
rs7653820794:111,542,481C/A—pathogenic
rs17290091924:111,542,489A/C—uncertain significance

Showing 100 of 178 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.