PTPRB

protein tyrosine phosphatase receptor type B

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 extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Known Variants121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs129378554312:70,918,335C/T—uncertain significance
rs20171875912:70,925,853C/T—uncertain significance
rs37706121012:70,925,858A/G—uncertain significance
rs249959707712:70,928,292G/A—uncertain significance
rs54332007012:70,928,382A/G—uncertain significance
rs76755932412:70,928,401G/A—uncertain significance
rs141660865812:70,928,633G/A—uncertain significance
rs76222146012:70,928,710G/A—uncertain significance
rs120307866012:70,929,819C/G—uncertain significance
rs78023959612:70,929,837C/T—uncertain significance
rs75501921712:70,929,849C/T—uncertain significance
rs104339092212:70,929,850G/C—uncertain significance
rs74645154712:70,929,933T/C—uncertain significance
rs77309881812:70,931,999C/T—uncertain significance
rs52860785912:70,932,761C/T—uncertain significance
rs37153558612:70,932,775C/T—uncertain significance
rs75086926212:70,933,407C/G—uncertain significance
rs36867378812:70,933,753G/A—uncertain significance
rs37500681812:70,933,771T/A—uncertain significance
rs148292821912:70,934,642C/T—uncertain significance
rs7763015312:70,938,383T/C—likely benign
rs76132151512:70,946,737T/C—uncertain significance
rs36987750012:70,948,954A/G—uncertain significance
rs1710833512:70,948,986G/C—benign
rs6175873512:70,949,014A/G—likely benign
rs249972133012:70,949,084G/C—uncertain significance
rs75144250312:70,949,703G/A—uncertain significance
rs128019834812:70,949,891C/G—uncertain significance
rs76418985512:70,949,905G/T—uncertain significance
rs11187483312:70,953,189C/T—likely benign
rs20144939812:70,953,191T/C—likely benign
rs230396312:70,953,277C/T—benign
rs11379108712:70,953,369T/Gmissense variant—
rs1710834412:70,954,464C/Tsynonymous variant—
rs74808653112:70,954,514C/T—uncertain significance
rs37215213412:70,954,546C/T—uncertain significance
rs249976230512:70,954,567T/C—uncertain significance
rs249976277712:70,954,610T/C—uncertain significance
rs77019258312:70,956,743A/G—uncertain significance
rs102731066912:70,956,768C/T—likely benign
rs88741031612:70,956,785A/C—uncertain significance
rs37697544912:70,956,827C/T—uncertain significance
rs37001150412:70,956,828G/A—uncertain significance
rs74974871312:70,956,845G/T—uncertain significance
rs146587525312:70,960,223C/T—uncertain significance
rs11367675012:70,960,242T/C—conflicting classifications of pathogenicity
rs187931815812:70,960,283T/A—uncertain significance
rs249980181312:70,960,299T/C—uncertain significance
rs11267000012:70,960,349C/T—likely benign
rs75089773412:70,960,413T/C—uncertain significance
rs37153387712:70,960,460A/G—likely benign
rs133655741812:70,960,473C/G—uncertain significance
rs11328409112:70,963,460C/T—uncertain significance
rs76524452012:70,963,461G/A—uncertain significance
rs55986428712:70,963,589A/G—uncertain significance
rs13969807212:70,963,665G/A—benign
rs54481391512:70,963,666G/T—uncertain significance
rs76253472912:70,963,682T/C—uncertain significance
rs138552638712:70,963,692T/A—uncertain significance
rs7434966712:70,964,802T/C—benign
rs74604285212:70,964,820A/G—uncertain significance
rs139132193312:70,964,830A/G—uncertain significance
rs249983575212:70,964,834C/A—uncertain significance
rs72415987412:70,964,892G/C—uncertain significance
rs37477339712:70,964,901C/T—uncertain significance
rs36933787712:70,964,982T/G—uncertain significance
rs37076196112:70,965,039C/T—uncertain significance
rs20020040512:70,965,684A/G—uncertain significance
rs36808759012:70,965,703A/C—uncertain significance
rs127573876712:70,965,716C/G—uncertain significance
rs53178093312:70,965,790T/C—uncertain significance
rs188012513512:70,965,837C/G—uncertain significance
rs138421602712:70,965,849C/T—uncertain significance
rs249986938212:70,970,251C/T—uncertain significance
rs20072076612:70,970,347G/T—uncertain significance
rs75641031712:70,970,456G/T—likely benign
rs37642826812:70,974,894C/T—uncertain significance
rs37416456612:70,974,996C/T—likely benign
rs76643563612:70,975,047G/T—uncertain significance
rs76440247612:70,980,805A/C—uncertain significance
rs249992439812:70,980,868C/T—uncertain significance
rs37599478812:70,981,034G/A—likely benign
rs37561442412:70,983,748C/A—uncertain significance
rs147972086712:70,983,775C/A—uncertain significance
rs77041216012:70,983,783C/T—uncertain significance
rs249994153012:70,983,905A/C—uncertain significance
rs20191418112:70,986,137C/T—uncertain significance
rs77388125812:70,986,145A/G—uncertain significance
rs188258234512:70,986,221T/C—uncertain significance
rs249995391312:70,986,234A/C—uncertain significance
rs75107548612:70,986,275A/T—uncertain significance
rs18086681412:70,986,295G/A—uncertain significance
rs26760365312:70,988,263C/T—uncertain significance
rs36797658212:70,988,268T/C—uncertain significance
rs18202378612:70,988,373C/T—likely benign
rs74592376712:70,988,390C/A—uncertain significance
rs53477615512:70,988,400T/C—uncertain significance
rs36917909812:70,988,480C/A—uncertain significance
rs249997187912:70,989,897T/C—uncertain significance
rs98861527212:70,990,035G/T—uncertain significance

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.