PTPN21

protein tyrosine phosphatase non-receptor type 21

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 contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]

Known Variants84 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76472495514:88,934,519C/T—uncertain significance
rs77093165614:88,934,576T/C—uncertain significance
rs250438020514:88,934,603C/G—uncertain significance
rs13910643814:88,935,354T/C—uncertain significance
rs14500920714:88,935,357G/A—uncertain significance
rs6174698314:88,935,360C/T—benign
rs250438558714:88,935,388G/A—uncertain significance
rs11684474014:88,936,027T/C—likely benign
rs14356245514:88,936,074C/T—uncertain significance
rs14497756714:88,938,632T/C—uncertain significance
rs227473614:88,938,652A/Tmissense variant—
rs250440243014:88,938,682C/T—uncertain significance
rs20160760914:88,938,718G/A—uncertain significance
rs126030082114:88,938,723C/G—uncertain significance
rs92282888014:88,938,740G/C—uncertain significance
rs76832891614:88,938,781T/C—uncertain significance
rs128812214:88,939,080G/Adownstream gene variant—
rs159534216414:88,940,017C/T—uncertain significance
rs13833705014:88,940,047C/T—uncertain significance
rs77734270314:88,940,067C/T—uncertain significance
rs76967706314:88,945,349G/C—uncertain significance
rs76290885014:88,945,355T/C—uncertain significance
rs76672299214:88,945,389T/G—uncertain significance
rs14059689914:88,945,419G/C—likely benign
rs37308519914:88,945,446C/T—uncertain significance
rs76010342014:88,945,506T/A—uncertain significance
rs6174707814:88,945,513G/A—benign
rs75066462414:88,945,542C/G—likely benign
rs130322596914:88,945,560G/C—uncertain significance
rs77631432914:88,945,565G/T—uncertain significance
rs207759834214:88,945,610T/A—uncertain significance
rs75832255514:88,945,612C/A—uncertain significance
rs77774306514:88,945,617C/T—uncertain significance
rs37094397914:88,945,630C/G—uncertain significance
rs14816178114:88,945,659T/G—uncertain significance
rs15024369614:88,945,689C/G—uncertain significance
rs75962698214:88,945,749T/C—uncertain significance
rs116097295014:88,945,751G/C—uncertain significance
rs94298485314:88,945,778G/C—uncertain significance
rs14715719614:88,945,782C/T—uncertain significance
rs129616584314:88,945,883T/C—uncertain significance
rs207760738614:88,945,892C/T—uncertain significance
rs115676522114:88,945,928G/C—uncertain significance
rs207760944314:88,945,947T/C—uncertain significance
rs14581980114:88,945,975G/C—benign
rs250443039614:88,946,047G/T—uncertain significance
rs75857786914:88,946,066G/A—uncertain significance
rs77700052114:88,946,097T/G—uncertain significance
rs74768504214:88,946,118G/A—uncertain significance
rs250443168814:88,946,135A/G—uncertain significance
rs76205511414:88,946,228T/C—uncertain significance
rs36756634414:88,946,243G/C—uncertain significance
rs53165695314:88,946,261G/A—uncertain significance
rs250443337714:88,946,283C/T—uncertain significance
rs135392324514:88,946,325T/A—uncertain significance
rs96839497814:88,946,343C/G—uncertain significance
rs20131560614:88,946,388C/T—uncertain significance
rs77104295614:88,946,390A/G—uncertain significance
rs76744926914:88,946,403G/A—uncertain significance
rs15029638614:88,946,448G/A—uncertain significance
rs14946036314:88,946,487C/G—uncertain significance
rs250443602214:88,946,601C/T—uncertain significance
rs75187435814:88,946,612C/T—uncertain significance
rs240175114:88,946,622G/Amissense variant—
rs2871163914:88,948,621G/Cintron variant—
rs14977749514:88,962,793G/A—uncertain significance
rs19998857114:88,967,182A/T—uncertain significance
rs76016485714:88,967,185C/T—uncertain significance
rs250449967214:88,967,678T/G—uncertain significance
rs14161559114:88,971,715G/A—uncertain significance
rs18694073314:88,974,285C/T—uncertain significance
rs118379884814:88,974,292A/C—uncertain significance
rs137025484014:88,974,333T/C—uncertain significance
rs14076391514:88,974,767C/Tintron variant—
rs92208451114:88,983,446C/T—uncertain significance
rs254202833514:88,983,447C/G—uncertain significance
rs254202865114:88,983,512C/T—uncertain significance
rs125801821314:88,983,524G/T—uncertain significance
rs14109199714:89,005,573G/Aintron variant—
rs18341741914:89,012,523A/Tintron variant—
rs37365893114:89,016,596G/C—uncertain significance
rs207884576314:89,016,619C/T—uncertain significance
rs75310487814:89,016,659C/T—uncertain significance
rs19392089914:89,016,668T/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.