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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6029959	20:40,704,664	C/A	—	—
rs2866943	20:40,707,879	C/T	3 prime UTR variant	benign
rs35393708	20:40,709,555	T/C	—	likely benign
rs746059787	20:40,710,554	G/A	—	uncertain significance
rs540166971	20:40,710,582	A/C	—	uncertain significance
rs2515515748	20:40,710,626	C/T	—	uncertain significance
rs151076965	20:40,710,643	C/T	—	likely benign
rs6130030	20:40,713,314	A/G	—	benign
rs1272852268	20:40,713,340	C/T	—	uncertain significance
rs779764608	20:40,713,353	C/T	—	uncertain significance
rs180871064	20:40,713,385	C/G	—	uncertain significance
rs751405410	20:40,713,420	C/T	—	likely benign
rs199947379	20:40,713,421	G/A	—	uncertain significance
rs374501675	20:40,713,433	G/A	—	uncertain significance
rs775489787	20:40,714,369	C/T	—	uncertain significance
rs1441976520	20:40,714,387	C/T	—	uncertain significance
rs61740451	20:40,714,457	A/T	—	likely benign
rs775362831	20:40,714,460	C/T	—	uncertain significance
rs2016647	20:40,714,479	G/A	—	benign
rs375402843	20:40,727,138	C/T	—	uncertain significance
rs138377903	20:40,727,162	T/C	—	likely benign
rs761148007	20:40,727,168	C/G	—	uncertain significance
rs200157212	20:40,727,174	C/T	—	uncertain significance
rs184977298	20:40,730,775	C/T	—	likely benign
rs372700928	20:40,730,831	C/T	—	uncertain significance
rs35010609	20:40,730,848	G/A	—	likely benign
rs149070505	20:40,730,856	T/C	—	likely benign
rs753788938	20:40,730,915	C/T	—	uncertain significance
rs2515641383	20:40,730,927	A/G	—	uncertain significance
rs1425286016	20:40,733,294	G/A	—	uncertain significance
rs189118400	20:40,735,471	G/A	—	benign
rs763584414	20:40,735,503	C/T	—	uncertain significance
rs1400066941	20:40,735,521	T/C	—	uncertain significance
rs775998497	20:40,739,003	G/A	—	uncertain significance
rs111792993	20:40,739,068	G/A	—	benign
rs2076248	20:40,743,829	A/G	—	benign
rs41310016	20:40,743,945	A/G	—	benign
rs762809890	20:40,747,084	C/T	—	uncertain significance
rs34284587	20:40,747,085	G/A	—	benign
rs1289236573	20:40,747,089	T/A	—	uncertain significance
rs2515717229	20:40,748,586	A/G	—	uncertain significance
rs73909220	20:40,757,444	C/G	—	benign
rs200871809	20:40,757,453	T/G	—	likely benign
rs186961281	20:40,770,651	C/A	—	benign
rs61753667	20:40,790,072	C/T	—	uncertain significance
rs759416965	20:40,790,089	C/T	—	uncertain significance
rs148734153	20:40,790,142	C/T	—	likely benign
rs35071062	20:40,790,160	A/G	—	benign
rs760735173	20:40,790,171	G/A	—	uncertain significance
rs201911869	20:40,827,886	C/T	—	uncertain significance
rs573377632	20:40,827,892	C/T	—	uncertain significance
rs753248650	20:40,827,902	A/T	—	uncertain significance
rs370192193	20:40,827,920	A/T	—	uncertain significance
rs61749502	20:40,827,934	C/T	—	benign
rs370526586	20:40,827,956	G/T	—	uncertain significance
rs200127403	20:40,827,998	C/G	—	uncertain significance
rs7345986	20:40,840,779	A/C	—	—
rs772426498	20:40,864,902	T/C	—	likely benign
rs758233973	20:40,877,337	T/C	—	uncertain significance
rs143630572	20:40,877,358	G/C	—	likely benign
rs2516271353	20:40,877,360	A/G	—	uncertain significance
rs2516271919	20:40,877,412	T/G	—	uncertain significance
rs758176792	20:40,877,436	C/T	—	uncertain significance
rs538256878	20:40,899,061	T/G	—	benign
rs199994862	20:40,899,066	G/A	—	uncertain significance
rs534320934	20:40,899,088	T/C	—	uncertain significance
rs202211949	20:40,911,154	G/A	—	likely benign
rs367646009	20:40,944,453	G/A	—	likely benign
rs1157674057	20:40,944,472	T/C	—	uncertain significance
rs371433526	20:40,944,527	C/T	—	uncertain significance
rs374933401	20:40,944,528	G/A	—	likely benign
rs182839541	20:40,944,578	T/A	—	uncertain significance
rs764919361	20:40,979,284	G/A	—	uncertain significance
rs377291418	20:40,979,351	G/A	—	likely benign
rs201657236	20:40,979,359	G/A	—	uncertain significance
rs35858700	20:40,980,773	T/C	—	benign
rs1033486919	20:40,980,775	C/T	—	uncertain significance
rs200669723	20:40,980,821	A/G	—	likely benign
rs1182688044	20:40,980,828	A/G	—	uncertain significance
rs780013814	20:40,980,870	C/T	—	uncertain significance
rs2058295458	20:40,980,891	C/G	—	uncertain significance
rs201153898	20:40,980,902	C/T	—	likely benign
rs926083986	20:40,980,907	C/T	—	uncertain significance
rs763915400	20:40,980,913	C/T	—	uncertain significance
rs1060499749	20:40,980,928	G/A	—	pathogenic
rs6030171	20:40,994,094	T/C	intron variant	—
rs3890324	20:41,072,655	C/A	intron variant	—
rs767966403	20:41,076,877	C/T	—	uncertain significance
rs779566022	20:41,076,898	G/T	—	uncertain significance
rs146227148	20:41,076,932	C/G	—	likely benign
rs1194371212	20:41,076,958	C/G	—	uncertain significance
rs41279250	20:41,100,922	C/T	—	benign
rs375501287	20:41,100,955	G/A	—	likely benign
rs139827761	20:41,101,015	G/A	—	benign
rs192944843	20:41,101,050	C/T	—	uncertain significance
rs41279252	20:41,101,051	G/A	—	benign
rs747194630	20:41,101,074	A/G	—	uncertain significance
rs1243176969	20:41,101,109	C/T	—	uncertain significance
rs41279254	20:41,101,161	T/G	—	benign
rs41279256	20:41,101,170	C/T	—	benign

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

Gene information from NCBI Gene. Variant classifications from ClinVar.