PTPRF

protein tyrosine phosphatase receptor type F

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 intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

Known Variants187 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs142952526	1:43,994,061	C/T	upstream gene variant	—
rs2819332	1:44,005,280	G/A	intron variant	—
rs2842189	1:44,007,648	T/A	—	—
rs376974470	1:44,010,775	C/T	—	uncertain significance
rs117228743	1:44,010,801	G/A	—	uncertain significance
rs201337870	1:44,010,824	C/T	—	likely benign
rs951740	1:44,011,737	G/A	regulatory region variant	—
rs2842188	1:44,014,280	T/G	—	—
rs763748777	1:44,019,164	C/G	—	uncertain significance
rs199980050	1:44,019,182	A/G	—	likely benign
rs775187760	1:44,019,270	A/C	—	uncertain significance
rs367865707	1:44,019,301	G/A	—	uncertain significance
rs6684279	1:44,019,305	C/T	—	benign
rs144175107	1:44,019,313	G/A	—	benign
rs1346277417	1:44,019,484	A/G	—	uncertain significance
rs571501672	1:44,019,551	G/C	—	uncertain significance
rs2842176	1:44,022,534	C/T	intron variant	—
rs12076635	1:44,026,656	G/T	—	—
rs61769611	1:44,028,913	G/A	intron variant	—
rs960194475	1:44,035,343	G/A	—	uncertain significance
rs1065771	1:44,035,352	C/T	—	benign
rs2546575016	1:44,035,381	C/A	—	uncertain significance
rs774501830	1:44,035,444	G/A	—	uncertain significance
rs193129088	1:44,036,139	G/T	intron variant	—
rs2842171	1:44,039,850	A/G	intron variant	—
rs10789436	1:44,040,966	T/C	—	—
rs140062416	1:44,044,548	G/A	—	likely benign
rs2546695938	1:44,044,570	C/T	—	uncertain significance
rs540168118	1:44,044,575	G/A	—	benign
rs188887556	1:44,053,413	C/T	regulatory region variant	—
rs568517762	1:44,054,482	G/A	—	uncertain significance
rs2546836799	1:44,054,507	A/G	—	uncertain significance
rs755196035	1:44,054,508	C/T	—	likely benign
rs754635285	1:44,054,518	A/G	—	uncertain significance
rs142181863	1:44,054,530	G/A	—	uncertain significance
rs747883338	1:44,054,540	C/G	—	uncertain significance
rs182835593	1:44,056,646	T/C	—	uncertain significance
rs781347680	1:44,056,669	G/A	—	uncertain significance
rs1410741955	1:44,056,736	C/A	—	uncertain significance
rs79621077	1:44,056,759	G/T	—	likely benign
rs2546872543	1:44,056,772	A/G	—	uncertain significance
rs3748795	1:44,056,806	C/T	—	benign
rs779257179	1:44,056,856	G/A	—	uncertain significance
rs61733187	1:44,056,889	C/T	—	likely benign
rs748429132	1:44,056,912	C/A	—	uncertain significance
rs373662568	1:44,056,913	G/A	—	uncertain significance
rs772934252	1:44,056,926	G/C	—	uncertain significance
rs765580388	1:44,056,950	C/T	—	likely benign
rs1041299405	1:44,057,016	C/T	—	likely benign
rs3748796	1:44,057,042	A/G	—	benign
rs1557790674	1:44,057,059	C/T	—	uncertain significance
rs377187180	1:44,057,070	G/A	—	likely benign
rs1650694068	1:44,057,089	A/C	—	uncertain significance
rs1650694753	1:44,057,090	A/C	—	uncertain significance
rs1650696497	1:44,057,092	A/C	—	uncertain significance
rs150324325	1:44,057,116	G/A	—	uncertain significance
rs188853413	1:44,057,233	G/A	—	benign
rs747134912	1:44,057,506	C/A	—	uncertain significance
rs139284587	1:44,057,557	C/G	—	uncertain significance
rs200879907	1:44,057,595	G/T	—	uncertain significance
rs370698404	1:44,057,598	G/A	—	likely benign
rs141736132	1:44,057,628	C/T	—	benign
rs201946505	1:44,057,629	G/C	—	benign
rs756352829	1:44,058,138	C/T	—	uncertain significance
rs3748800	1:44,058,143	G/A	—	benign
rs753304290	1:44,058,195	G/A	—	likely benign
rs144513069	1:44,058,213	G/A	—	uncertain significance
rs3828151	1:44,058,265	C/A	—	benign
rs583040	1:44,060,483	G/T	—	—
rs868510741	1:44,063,424	T/A	—	likely benign
rs1318858989	1:44,063,426	C/T	—	likely benign
rs751860015	1:44,063,432	T/A	—	likely benign
rs17849101	1:44,063,508	C/T	—	benign
rs376955084	1:44,063,549	G/A	—	likely benign
rs774549273	1:44,063,555	C/T	—	likely benign
rs775642004	1:44,063,559	G/A	—	uncertain significance
rs572442326	1:44,063,565	C/T	—	uncertain significance
rs1331614439	1:44,063,569	G/A	—	uncertain significance
rs1313041022	1:44,063,693	C/A	—	uncertain significance
rs200783367	1:44,063,714	C/T	—	likely benign
rs147762557	1:44,064,395	C/T	—	likely benign
rs201048136	1:44,064,516	G/A	—	uncertain significance
rs12059628	1:44,067,473	T/G	—	—
rs760137603	1:44,067,746	G/A	—	uncertain significance
rs777372045	1:44,069,109	C/T	—	uncertain significance
rs145092417	1:44,069,349	A/G	—	benign
rs2547064940	1:44,069,353	A/G	—	uncertain significance
rs371712672	1:44,069,361	G/C	—	likely benign
rs140594531	1:44,069,384	G/A	—	uncertain significance
rs76320098	1:44,069,388	G/A	—	benign
rs144536559	1:44,069,411	C/T	—	uncertain significance
rs750031933	1:44,069,419	A/G	—	uncertain significance
rs141782417	1:44,069,425	A/G	—	uncertain significance
rs776694646	1:44,069,459	T/C	—	uncertain significance
rs146700581	1:44,069,463	C/T	—	likely benign
rs143833153	1:44,069,464	G/A	—	uncertain significance
rs1396031076	1:44,069,475	G/C	—	uncertain significance
rs1228814877	1:44,069,479	A/G	—	likely benign
rs199570599	1:44,069,495	G/A	—	uncertain significance
rs374013593	1:44,069,512	C/G	—	uncertain significance

Showing 100 of 187 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.