PTPRT

protein tyrosine phosphatase receptor type T

Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

Known Variants142 total

rsidPosition (GRCh37)AllelesClassClinVar
rs602995920:40,704,664C/A——
rs286694320:40,707,879C/T3 prime UTR variantbenign
rs3539370820:40,709,555T/C—likely benign
rs74605978720:40,710,554G/A—uncertain significance
rs54016697120:40,710,582A/C—uncertain significance
rs251551574820:40,710,626C/T—uncertain significance
rs15107696520:40,710,643C/T—likely benign
rs613003020:40,713,314A/G—benign
rs127285226820:40,713,340C/T—uncertain significance
rs77976460820:40,713,353C/T—uncertain significance
rs18087106420:40,713,385C/G—uncertain significance
rs75140541020:40,713,420C/T—likely benign
rs19994737920:40,713,421G/A—uncertain significance
rs37450167520:40,713,433G/A—uncertain significance
rs77548978720:40,714,369C/T—uncertain significance
rs144197652020:40,714,387C/T—uncertain significance
rs6174045120:40,714,457A/T—likely benign
rs77536283120:40,714,460C/T—uncertain significance
rs201664720:40,714,479G/A—benign
rs37540284320:40,727,138C/T—uncertain significance
rs13837790320:40,727,162T/C—likely benign
rs76114800720:40,727,168C/G—uncertain significance
rs20015721220:40,727,174C/T—uncertain significance
rs18497729820:40,730,775C/T—likely benign
rs37270092820:40,730,831C/T—uncertain significance
rs3501060920:40,730,848G/A—likely benign
rs14907050520:40,730,856T/C—likely benign
rs75378893820:40,730,915C/T—uncertain significance
rs251564138320:40,730,927A/G—uncertain significance
rs142528601620:40,733,294G/A—uncertain significance
rs18911840020:40,735,471G/A—benign
rs76358441420:40,735,503C/T—uncertain significance
rs140006694120:40,735,521T/C—uncertain significance
rs77599849720:40,739,003G/A—uncertain significance
rs11179299320:40,739,068G/A—benign
rs207624820:40,743,829A/G—benign
rs4131001620:40,743,945A/G—benign
rs76280989020:40,747,084C/T—uncertain significance
rs3428458720:40,747,085G/A—benign
rs128923657320:40,747,089T/A—uncertain significance
rs251571722920:40,748,586A/G—uncertain significance
rs7390922020:40,757,444C/G—benign
rs20087180920:40,757,453T/G—likely benign
rs18696128120:40,770,651C/A—benign
rs6175366720:40,790,072C/T—uncertain significance
rs75941696520:40,790,089C/T—uncertain significance
rs14873415320:40,790,142C/T—likely benign
rs3507106220:40,790,160A/G—benign
rs76073517320:40,790,171G/A—uncertain significance
rs20191186920:40,827,886C/T—uncertain significance
rs57337763220:40,827,892C/T—uncertain significance
rs75324865020:40,827,902A/T—uncertain significance
rs37019219320:40,827,920A/T—uncertain significance
rs6174950220:40,827,934C/T—benign
rs37052658620:40,827,956G/T—uncertain significance
rs20012740320:40,827,998C/G—uncertain significance
rs734598620:40,840,779A/C——
rs77242649820:40,864,902T/C—likely benign
rs75823397320:40,877,337T/C—uncertain significance
rs14363057220:40,877,358G/C—likely benign
rs251627135320:40,877,360A/G—uncertain significance
rs251627191920:40,877,412T/G—uncertain significance
rs75817679220:40,877,436C/T—uncertain significance
rs53825687820:40,899,061T/G—benign
rs19999486220:40,899,066G/A—uncertain significance
rs53432093420:40,899,088T/C—uncertain significance
rs20221194920:40,911,154G/A—likely benign
rs36764600920:40,944,453G/A—likely benign
rs115767405720:40,944,472T/C—uncertain significance
rs37143352620:40,944,527C/T—uncertain significance
rs37493340120:40,944,528G/A—likely benign
rs18283954120:40,944,578T/A—uncertain significance
rs76491936120:40,979,284G/A—uncertain significance
rs37729141820:40,979,351G/A—likely benign
rs20165723620:40,979,359G/A—uncertain significance
rs3585870020:40,980,773T/C—benign
rs103348691920:40,980,775C/T—uncertain significance
rs20066972320:40,980,821A/G—likely benign
rs118268804420:40,980,828A/G—uncertain significance
rs78001381420:40,980,870C/T—uncertain significance
rs205829545820:40,980,891C/G—uncertain significance
rs20115389820:40,980,902C/T—likely benign
rs92608398620:40,980,907C/T—uncertain significance
rs76391540020:40,980,913C/T—uncertain significance
rs106049974920:40,980,928G/A—pathogenic
rs603017120:40,994,094T/Cintron variant—
rs389032420:41,072,655C/Aintron variant—
rs76796640320:41,076,877C/T—uncertain significance
rs77956602220:41,076,898G/T—uncertain significance
rs14622714820:41,076,932C/G—likely benign
rs119437121220:41,076,958C/G—uncertain significance
rs4127925020:41,100,922C/T—benign
rs37550128720:41,100,955G/A—likely benign
rs13982776120:41,101,015G/A—benign
rs19294484320:41,101,050C/T—uncertain significance
rs4127925220:41,101,051G/A—benign
rs74719463020:41,101,074A/G—uncertain significance
rs124317696920:41,101,109C/T—uncertain significance
rs4127925420:41,101,161T/G—benign
rs4127925620:41,101,170C/T—benign

Showing 100 of 142 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.