PTK2

protein tyrosine kinase 2

Summary

This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]

Known Variants68 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74608:141,668,860A/T—benign
rs7482950728:141,669,705A/G—uncertain significance
rs5274810948:141,669,728T/C—likely benign
rs1394420648:141,675,045G/C—uncertain significance
rs559659488:141,678,398G/A—benign
rs617330478:141,678,415T/C—uncertain significance
rs1449346628:141,678,442G/A—likely benign
rs1490657288:141,678,447G/A—uncertain significance
rs561148008:141,678,458G/A—benign
rs25513349708:141,678,469C/A—uncertain significance
rs7777267218:141,678,479G/C—uncertain significance
rs1467291998:141,678,486T/C—uncertain significance
rs1403711058:141,684,459C/T—uncertain significance
rs7801529848:141,684,495C/T—uncertain significance
rs132660668:141,700,117C/Tintron variant—
rs121562288:141,701,299T/A——
rs1404379458:141,711,002C/T—likely benign
rs25522103538:141,711,049G/A—uncertain significance
rs557991338:141,711,104G/T—uncertain significance
rs1857967368:141,711,117G/C—uncertain significance
rs132606668:141,712,150G/T——
rs3676679778:141,712,671C/T—uncertain significance
rs1411966608:141,712,692C/T—conflicting classifications of pathogenicity
rs7640771508:141,712,694A/G—uncertain significance
rs1392398138:141,712,756G/C—uncertain significance
rs14036933088:141,712,772G/A—uncertain significance
rs1475315388:141,716,248T/G—likely benign
rs1378894568:141,716,278C/T—likely benign
rs7741246538:141,716,294G/C—uncertain significance
rs1394953708:141,745,394G/A—benign
rs1496941138:141,745,433A/G—benign
rs21544724008:141,754,859G/A—uncertain significance
rs9748575718:141,756,916A/T—likely benign
rs1436341328:141,762,358C/T—uncertain significance
rs3693229768:141,762,360C/T—uncertain significance
rs13344970618:141,771,332T/C—uncertain significance
rs25522906748:141,771,344G/C—uncertain significance
rs7592015118:141,774,350G/A—uncertain significance
rs1863942798:141,774,367A/T—likely benign
rs78430148:141,790,481A/C—benign
rs7489595298:141,799,589G/A—likely benign
rs1464076508:141,810,586C/T—benign
rs1397537498:141,810,604C/A—benign
rs3698124128:141,810,644A/G—uncertain significance
rs7530277278:141,811,120T/C——
rs49612938:141,812,374C/Tintron variant—
rs1999838028:141,813,702T/G—likely benign
rs1486115608:141,840,574G/A—benign
rs25523007128:141,856,741C/G—uncertain significance
rs14298366518:141,856,770C/T—uncertain significance
rs100877828:141,858,620T/Cintron variant—
rs25523013778:141,874,420G/C—uncertain significance
rs2000175178:141,889,622C/T—uncertain significance
rs9563569318:141,889,623G/A—likely benign
rs1415751348:141,889,711C/G—uncertain significance
rs7463492468:141,900,680C/T—uncertain significance
rs25523026488:141,900,733C/T—uncertain significance
rs1913767168:141,900,797G/T—uncertain significance
rs2000630708:141,900,854G/A—benign
rs132730958:141,926,938T/C——
rs117841278:141,941,507C/A——
rs117823138:141,964,183C/Tintron variant—
rs287684278:141,988,685G/A——
rs625219538:141,988,944A/C——
rs117800238:141,992,778T/Cintron variant—
rs3069608:142,005,245C/A——
rs101064068:142,006,198C/T——
rs18114758:142,010,226C/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.