PTPRD

protein tyrosine phosphatase receptor type D

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 region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]

Known Variants209 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs150063446	9:8,317,921	G/A	—	uncertain significance
rs753209923	9:8,319,833	C/G	—	uncertain significance
rs1825644432	9:8,319,890	C/G	—	uncertain significance
rs1825701502	9:8,319,964	G/A	—	uncertain significance
rs76379489	9:8,331,548	C/T	—	benign
rs140620944	9:8,331,644	G/A	—	likely benign
rs768898379	9:8,331,660	C/A	—	uncertain significance
rs768719522	9:8,333,517	C/T	—	—
rs553232071	9:8,340,356	C/A	—	uncertain significance
rs779868747	9:8,341,114	T/C	—	uncertain significance
rs1302339364	9:8,341,140	A/C	—	likely benign
rs747517194	9:8,341,184	T/C	—	uncertain significance
rs12351899	9:8,341,185	A/G	—	benign
rs1175706111	9:8,341,220	G/C	—	uncertain significance
rs201344661	9:8,341,267	C/T	—	uncertain significance
rs2132505015	9:8,341,818	C/T	—	uncertain significance
rs144200611	9:8,376,609	T/G	—	uncertain significance
rs2134909012	9:8,376,669	C/G	—	uncertain significance
rs751203177	9:8,376,681	C/T	—	uncertain significance
rs756058132	9:8,376,686	G/T	—	uncertain significance
rs117049052	9:8,389,328	T/A	—	likely benign
rs75966719	9:8,389,343	A/G	—	benign
rs2279776	9:8,389,364	C/G	synonymous variant	benign
rs765188611	9:8,389,415	A/G	—	likely benign
rs751337528	9:8,404,552	G/C	—	uncertain significance
rs201122675	9:8,404,586	C/T	—	likely benign
rs138755135	9:8,404,607	G/A	—	likely benign
rs10815861	9:8,417,956	T/C	intron variant	—
rs10815863	9:8,418,224	C/T	—	—
rs12003835	9:8,424,378	G/T	intron variant	—
rs888423638	9:8,436,600	C/T	—	uncertain significance
rs1404460582	9:8,436,626	G/C	—	uncertain significance
rs376447989	9:8,436,661	G/C	—	uncertain significance
rs560492673	9:8,446,498	T/C	—	—
rs772305581	9:8,449,727	G/A	—	uncertain significance
rs1564891123	9:8,449,766	G/T	—	uncertain significance
rs533663469	9:8,449,778	G/A	—	uncertain significance
rs61733196	9:8,449,799	G/T	—	uncertain significance
rs184140292	9:8,457,116	T/C	intron variant	—
rs375476104	9:8,460,489	C/G	—	uncertain significance
rs762979665	9:8,460,498	T/A	—	uncertain significance
rs200683418	9:8,460,539	G/A	—	likely benign
rs926439524	9:8,460,540	G/C	—	uncertain significance
rs150856940	9:8,465,529	C/T	—	likely benign
rs41281787	9:8,465,580	G/T	—	benign
rs761053201	9:8,465,596	T/C	—	uncertain significance
rs2281747	9:8,465,598	A/G	—	benign
rs140976651	9:8,465,630	T/G	—	likely benign
rs2551293200	9:8,465,635	T/C	—	uncertain significance
rs747058765	9:8,465,656	C/A	—	uncertain significance
rs973915971	9:8,471,024	C/G	—	uncertain significance
rs7865681	9:8,471,046	G/A	—	benign
rs373588955	9:8,471,079	G/A	—	likely benign
rs780731723	9:8,484,189	T/C	—	uncertain significance
rs61733195	9:8,484,190	G/A	—	benign
rs775510240	9:8,484,203	G/A	—	uncertain significance
rs1354205318	9:8,484,230	G/A	—	uncertain significance
rs754865178	9:8,484,232	C/T	—	likely benign
rs12344148	9:8,484,240	T/G	—	benign
rs2135783274	9:8,484,294	A/T	—	uncertain significance
rs7869444	9:8,484,298	C/A	—	benign
rs768625058	9:8,484,351	C/T	—	uncertain significance
rs747861210	9:8,484,362	C/G	—	uncertain significance
rs372913161	9:8,484,386	G/C	—	likely benign
rs143674254	9:8,485,787	C/G	—	benign
rs777724681	9:8,485,788	T/C	—	uncertain significance
rs35929428	9:8,485,834	G/A	—	benign
rs368569086	9:8,485,845	T/A	—	uncertain significance
rs977816283	9:8,485,857	T/A	—	uncertain significance
rs368787989	9:8,485,876	G/C	—	uncertain significance
rs375286955	9:8,485,887	G/A	—	uncertain significance
rs201017248	9:8,485,900	C/T	—	uncertain significance
rs3824417	9:8,485,928	G/A	—	benign
rs370343083	9:8,485,931	G/A	—	likely benign
rs1290375270	9:8,485,944	T/G	—	uncertain significance
rs61733170	9:8,485,996	G/C	—	benign
rs2135937762	9:8,486,008	A/T	—	uncertain significance
rs375803455	9:8,486,014	C/T	—	uncertain significance
rs776518551	9:8,486,044	G/T	—	uncertain significance
rs73426355	9:8,486,061	G/T	—	uncertain significance
rs779664035	9:8,486,065	G/C	—	uncertain significance
rs746464393	9:8,486,113	C/A	—	uncertain significance
rs144111555	9:8,486,132	G/C	—	likely benign
rs151005956	9:8,486,142	A/G	—	likely benign
rs61733191	9:8,486,174	T/G	—	likely benign
rs994861872	9:8,486,211	G/T	—	uncertain significance
rs73426359	9:8,486,217	G/A	—	uncertain significance
rs145199902	9:8,486,219	C/T	—	likely benign
rs61733192	9:8,486,284	G/A	—	uncertain significance
rs769862703	9:8,486,312	C/G	—	uncertain significance
rs536936783	9:8,486,334	C/G	—	uncertain significance
rs183119115	9:8,486,355	G/A	—	likely benign
rs370537977	9:8,492,900	G/C	—	uncertain significance
rs12346849	9:8,492,902	A/T	—	benign
rs201412075	9:8,492,931	C/T	—	uncertain significance
rs142228841	9:8,492,977	G/A	—	likely benign
rs142331255	9:8,499,661	G/C	—	uncertain significance
rs1333470758	9:8,499,664	T/A	—	uncertain significance
rs115415584	9:8,499,770	G/A	—	benign
rs150444130	9:8,499,805	C/A	—	likely benign

Showing 100 of 209 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.