PTPRM

protein tyrosine phosphatase receptor type M

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 catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Known Variants101 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4798571	18:7,584,294	G/A	intron variant	—
rs79609174	18:7,610,655	A/T	intron variant	—
rs758180616	18:7,724,153	A/G	—	—
rs7243299	18:7,755,771	T/C	regulatory region variant	—
rs752156618	18:7,774,148	T/C	—	likely benign
rs1429120070	18:7,774,171	A/G	—	uncertain significance
rs35224276	18:7,774,190	T/A	—	benign
rs148329685	18:7,774,208	C/T	—	benign
rs776571679	18:7,774,213	A/G	—	uncertain significance
rs113690903	18:7,774,220	G/A	—	likely benign
rs2510749814	18:7,774,239	A/G	—	uncertain significance
rs75870936	18:7,885,418	T/G	intron variant	—
rs113099035	18:7,888,115	C/A	—	uncertain significance
rs145125577	18:7,888,230	A/G	—	uncertain significance
rs1198756009	18:7,888,284	G/A	—	uncertain significance
rs145102453	18:7,888,306	T/C	—	likely benign
rs778033389	18:7,888,314	C/A	—	uncertain significance
rs560144418	18:7,888,329	A/G	—	uncertain significance
rs2510630760	18:7,906,537	G/C	—	uncertain significance
rs751358939	18:7,906,548	A/G	—	uncertain significance
rs1456131734	18:7,906,560	A/C	—	uncertain significance
rs370655652	18:7,926,612	T/C	—	likely benign
rs373902112	18:7,949,170	T/C	—	likely benign
rs759335807	18:7,949,275	G/A	—	uncertain significance
rs775840989	18:7,949,290	C/T	—	uncertain significance
rs202017391	18:7,955,112	C/G	—	likely benign
rs145680685	18:7,955,126	C/T	—	likely benign
rs368960026	18:7,955,151	G/A	—	uncertain significance
rs34345020	18:7,955,279	C/T	—	benign
rs150274533	18:7,955,287	C/G	—	uncertain significance
rs763863215	18:7,955,290	G/A	—	uncertain significance
rs78361801	18:7,982,545	T/A	—	—
rs16952773	18:8,039,004	A/G	intron variant	—
rs982828061	18:8,069,728	T/A	—	uncertain significance
rs145226629	18:8,069,757	A/G	—	benign
rs769216825	18:8,069,824	G/A	—	uncertain significance
rs375393712	18:8,069,832	A/G	—	likely benign
rs201963689	18:8,069,840	G/A	—	uncertain significance
rs770206877	18:8,069,860	A/G	—	uncertain significance
rs2230601	18:8,069,868	T/C	—	benign
rs115049981	18:8,069,886	G/A	—	benign
rs769632993	18:8,076,459	G/T	—	uncertain significance
rs779722021	18:8,085,730	G/C	—	uncertain significance
rs753484273	18:8,085,757	A/G	—	uncertain significance
rs2510179963	18:8,085,780	C/T	—	uncertain significance
rs2090405367	18:8,085,866	A/G	—	uncertain significance
rs143759203	18:8,088,741	C/T	—	likely benign
rs760897331	18:8,088,761	G/T	—	conflicting classifications of pathogenicity
rs1026549333	18:8,088,797	A/G	—	uncertain significance
rs762039398	18:8,113,513	G/A	—	uncertain significance
rs201745703	18:8,113,534	C/T	—	uncertain significance
rs140496334	18:8,113,558	C/T	—	uncertain significance
rs200309598	18:8,113,566	A/G	—	uncertain significance
rs34831755	18:8,113,607	C/T	—	benign
rs149158808	18:8,113,646	G/A	—	likely benign
rs558006880	18:8,116,743	G/A	—	—
rs373023204	18:8,143,677	G/A	—	uncertain significance
rs34073660	18:8,143,721	G/A	—	benign
rs762422870	18:8,143,755	G/T	—	uncertain significance
rs8098064	18:8,209,269	G/A	intron variant	—
rs1304617802	18:8,244,156	A/C	—	uncertain significance
rs147989230	18:8,244,182	G/A	—	likely benign
rs2511400586	18:8,247,888	G/A	—	uncertain significance
rs527524261	18:8,248,168	A/G	—	uncertain significance
rs9964029	18:8,248,619	G/A	intron variant	—
rs367853227	18:8,253,294	C/T	—	uncertain significance
rs139142605	18:8,253,299	G/A	—	uncertain significance
rs200364748	18:8,253,302	G/A	—	uncertain significance
rs78499397	18:8,253,304	G/A	—	benign
rs773443231	18:8,253,381	C/T	—	uncertain significance
rs72911294	18:8,253,602	C/T	intron variant	—
rs148794645	18:8,267,766	A/T	intron variant	—
rs6506569	18:8,275,857	T/C	intron variant	—
rs1240985069	18:8,314,820	A/G	—	uncertain significance
rs776418901	18:8,314,848	A/T	—	uncertain significance
rs681383	18:8,323,984	T/G	—	—
rs151308535	18:8,376,097	G/A	—	likely benign
rs200105528	18:8,376,516	C/G	—	uncertain significance
rs772294333	18:8,376,518	G/A	—	uncertain significance
rs147224252	18:8,376,604	G/A	—	likely benign
rs764281560	18:8,378,288	C/T	—	uncertain significance
rs774507652	18:8,378,363	A/G	—	uncertain significance
rs779665748	18:8,379,213	G/A	—	uncertain significance
rs142773706	18:8,379,233	T/C	—	likely benign
rs201312634	18:8,379,281	C/T	—	likely benign
rs57391962	18:8,379,296	T/C	—	benign
rs2510321724	18:8,379,333	A/G	—	uncertain significance
rs769342771	18:8,380,396	G/A	—	uncertain significance
rs3744983	18:8,380,419	T/C	—	benign
rs1320770519	18:8,384,614	T/C	—	uncertain significance
rs594742	18:8,387,065	C/T	—	benign
rs149722113	18:8,387,075	A/G	—	likely benign
rs61737158	18:8,387,120	G/A	—	benign
rs147695315	18:8,387,138	A/G	—	benign
rs775967240	18:8,387,193	G/A	—	uncertain significance
rs593978	18:8,387,195	G/A	—	benign
rs593950	18:8,387,219	C/G	—	benign
rs576708975	18:8,394,488	G/A	—	uncertain significance
rs142178302	18:8,394,505	G/A	—	uncertain significance
rs755740975	18:8,394,555	C/A	—	likely benign

Showing 100 of 101 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.