TJP1

tight junction protein 1

Summary

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]

Known Variants134 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36991572915:29,993,840C/A—uncertain significance
rs77505075515:29,993,858C/T—uncertain significance
rs123798842315:29,993,868C/A—uncertain significance
rs20215525415:29,993,888G/A—uncertain significance
rs78110160915:29,996,421C/T—likely benign
rs37713076015:29,996,472G/A—likely benign
rs57553644915:29,996,484C/T—likely benign
rs254600882415:29,997,758A/G—uncertain significance
rs37165646215:29,997,784A/G—likely benign
rs20027190115:29,997,872T/C—uncertain significance
rs20095775315:30,000,832G/C—uncertain significance
rs53666461215:30,000,834G/C—uncertain significance
rs76456411715:30,000,850C/T—uncertain significance
rs19960353715:30,000,923A/G—uncertain significance
rs20209411315:30,001,091C/T—uncertain significance
rs56845554915:30,001,115G/A—uncertain significance
rs6173688015:30,001,149T/C—likely benign
rs254610932515:30,001,177T/C—uncertain significance
rs37409087215:30,003,043T/C—uncertain significance
rs140822492615:30,003,062T/C—uncertain significance
rs76822678615:30,003,073G/A—uncertain significance
rs118307897415:30,003,095G/A—uncertain significance
rs254617972315:30,003,106T/C—uncertain significance
rs37298134915:30,003,121G/A—uncertain significance
rs77797607515:30,003,128G/A—uncertain significance
rs20054914015:30,003,151T/C—uncertain significance
rs76281253815:30,003,161C/T—uncertain significance
rs254618431215:30,003,172C/T—uncertain significance
rs36969557015:30,003,181C/T—uncertain significance
rs716687815:30,008,856C/A—benign
rs222951815:30,008,889G/A—benign
rs54675031015:30,008,975G/A—uncertain significance
rs229116615:30,008,977T/Gmissense variantbenign
rs14823777015:30,008,985A/G—likely benign
rs20075967415:30,008,992C/T—uncertain significance
rs254639344715:30,010,271G/A—uncertain significance
rs204268007815:30,010,309G/A—uncertain significance
rs36844166715:30,010,493C/T—uncertain significance
rs53932906915:30,010,592C/T—uncertain significance
rs75854403515:30,010,640C/T—uncertain significance
rs204270701115:30,010,646G/A—uncertain significance
rs77514227115:30,010,687G/C—uncertain significance
rs148841431715:30,010,723G/A—uncertain significance
rs36969880315:30,010,822G/A—uncertain significance
rs37328698915:30,010,827C/T—likely benign
rs20194376115:30,010,841C/A—uncertain significance
rs37149807215:30,010,885G/C—uncertain significance
rs77106249315:30,010,886C/T—likely benign
rs53351764315:30,010,907C/T—uncertain significance
rs132590982215:30,011,006G/C—uncertain significance
rs3512016715:30,011,013A/C—likely benign
rs122358990115:30,011,026T/A—uncertain significance
rs20133209415:30,011,038C/T—uncertain significance
rs57125129215:30,011,039G/A—uncertain significance
rs123250587015:30,011,093G/T—uncertain significance
rs14050722515:30,011,116C/T—likely benign
rs20189931615:30,011,117G/T—conflicting classifications of pathogenicity
rs18085038915:30,011,131C/T—benign
rs37738553615:30,011,149T/C—uncertain significance
rs77621139115:30,011,189C/G—uncertain significance
rs254644933715:30,011,195T/C—uncertain significance
rs3601209915:30,011,235C/G—benign
rs13858986815:30,011,276C/T—uncertain significance
rs204277362015:30,011,310C/T—uncertain significance
rs75197784315:30,012,003G/A—uncertain significance
rs37276185015:30,012,004A/G—uncertain significance
rs19197370615:30,012,051C/T—conflicting classifications of pathogenicity
rs74538343715:30,012,159G/A—uncertain significance
rs128687035915:30,012,219T/C—uncertain significance
rs139766621015:30,012,590G/T—uncertain significance
rs76096511115:30,012,602T/C—uncertain significance
rs3477101015:30,012,606T/C—uncertain significance
rs20208441815:30,012,613T/G—likely benign
rs75460271215:30,012,620G/A—uncertain significance
rs74922676315:30,012,638G/T—uncertain significance
rs145443729315:30,012,684C/T—uncertain significance
rs77770895815:30,012,734T/C—uncertain significance
rs20038989115:30,012,766G/A—benign
rs75841787415:30,012,900T/C—uncertain significance
rs14713655315:30,012,910C/T—likely benign
rs76880796615:30,012,911G/A—uncertain significance
rs254664382415:30,018,620T/A—uncertain significance
rs222951515:30,018,627T/C—benign
rs119269936615:30,019,027G/C—uncertain significance
rs75761348315:30,019,033A/T—uncertain significance
rs37335787315:30,019,055A/C—likely benign
rs74757192515:30,019,081T/C—uncertain significance
rs204327620115:30,019,117A/G—uncertain significance
rs2842038115:30,020,170G/A—likely benign
rs128862153615:30,020,191G/A—uncertain significance
rs120144905715:30,024,628G/T—likely benign
rs77440223415:30,024,840C/T—uncertain significance
rs254680391315:30,024,871T/C—uncertain significance
rs123637339515:30,025,002C/G—uncertain significance
rs4547679615:30,025,028G/C—benign
rs20131560515:30,025,358G/C—uncertain significance
rs20091260915:30,025,403C/T—uncertain significance
rs254682357315:30,025,415C/T—uncertain significance
rs19990458815:30,025,436T/C—uncertain significance
rs76170263115:30,025,511C/T—uncertain significance

Showing 100 of 134 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.