PTPRN2
protein tyrosine phosphatase receptor type N2
Summary
This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Known Variants128 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61757813 | 7:157,333,411 | C/A | — | benign |
| rs1438108745 | 7:157,333,478 | T/C | — | uncertain significance |
| rs114742144 | 7:157,341,658 | G/C | — | likely benign |
| rs199649946 | 7:157,364,159 | C/T | — | uncertain significance |
| rs147434878 | 7:157,364,179 | T/C | — | likely benign |
| rs138801895 | 7:157,369,298 | G/A | — | benign |
| rs2535771949 | 7:157,369,398 | G/A | — | uncertain significance |
| rs762509017 | 7:157,370,717 | T/C | — | uncertain significance |
| rs373071385 | 7:157,370,775 | C/T | — | uncertain significance |
| rs10274279 | 7:157,387,441 | T/C | intron variant | — |
| rs1043478443 | 7:157,387,939 | G/T | — | uncertain significance |
| rs139538258 | 7:157,387,981 | C/T | — | likely benign |
| rs139627101 | 7:157,387,993 | C/T | — | benign |
| rs140246794 | 7:157,387,999 | G/A | — | likely benign |
| rs10267847 | 7:157,413,583 | G/A | — | — |
| rs146646375 | 7:157,414,055 | G/A | — | likely benign |
| rs193920806 | 7:157,414,059 | A/G | — | uncertain significance |
| rs115236051 | 7:157,414,127 | C/T | — | benign |
| rs143867881 | 7:157,414,146 | G/A | — | uncertain significance |
| rs142020708 | 7:157,414,148 | T/C | — | benign |
| rs377704440 | 7:157,414,167 | C/T | — | uncertain significance |
| rs188107551 | 7:157,443,686 | G/A | intron variant | — |
| rs140851646 | 7:157,449,061 | G/T | — | benign |
| rs375160644 | 7:157,449,115 | G/A | — | likely benign |
| rs1047290785 | 7:157,449,123 | G/A | — | uncertain significance |
| rs774814659 | 7:157,449,150 | C/T | — | uncertain significance |
| rs142100016 | 7:157,449,151 | G/A | — | likely benign |
| rs1368675019 | 7:157,449,175 | G/C | — | uncertain significance |
| rs180827256 | 7:157,449,191 | G/A | — | benign |
| rs760123174 | 7:157,449,215 | C/T | — | uncertain significance |
| rs371215634 | 7:157,449,227 | C/T | — | uncertain significance |
| rs372319883 | 7:157,475,425 | C/T | — | uncertain significance |
| rs368579481 | 7:157,475,533 | C/T | — | uncertain significance |
| rs10280711 | 7:157,481,780 | G/A | — | — |
| rs12531243 | 7:157,500,480 | C/T | intron variant | — |
| rs6459804 | 7:157,510,195 | C/A | — | — |
| rs55770502 | 7:157,515,972 | G/C | — | — |
| rs7801853 | 7:157,623,174 | T/C | intron variant | — |
| rs750352348 | 7:157,691,370 | C/T | — | uncertain significance |
| rs117087228 | 7:157,691,371 | G/C | — | likely benign |
| rs1436450948 | 7:157,691,421 | T/C | — | uncertain significance |
| rs113226164 | 7:157,700,345 | G/A | intron variant | — |
| rs1585262241 | 7:157,838,439 | C/A | — | — |
| rs1197495157 | 7:157,874,041 | C/T | — | uncertain significance |
| rs147057713 | 7:157,903,526 | G/A | — | benign |
| rs757384746 | 7:157,903,581 | C/T | — | likely benign |
| rs141762019 | 7:157,903,582 | G/A | — | uncertain significance |
| rs150594881 | 7:157,903,600 | G/A | — | uncertain significance |
| rs2335842 | 7:157,913,621 | G/A | intron variant | — |
| rs139250935 | 7:157,926,382 | C/T | — | uncertain significance |
| rs762317506 | 7:157,926,394 | G/T | — | likely benign |
| rs539169319 | 7:157,926,396 | G/A | — | uncertain significance |
| rs1026866908 | 7:157,926,438 | C/T | — | uncertain significance |
| rs773679570 | 7:157,926,459 | G/A | — | uncertain significance |
| rs151334443 | 7:157,926,523 | C/T | — | uncertain significance |
| rs747510182 | 7:157,926,529 | C/T | — | uncertain significance |
| rs140538499 | 7:157,926,530 | G/C | — | benign |
| rs111565944 | 7:157,926,536 | C/T | — | benign |
| rs773126557 | 7:157,926,667 | G/A | — | likely benign |
| rs1011994116 | 7:157,926,675 | A/T | — | uncertain significance |
| rs146255697 | 7:157,926,727 | C/T | — | uncertain significance |
| rs7456452 | 7:157,929,357 | A/T | — | benign |
| rs55645575 | 7:157,929,370 | C/T | — | benign |
| rs140996486 | 7:157,929,371 | G/A | — | benign |
| rs77347072 | 7:157,931,003 | C/T | — | benign |
| rs145671265 | 7:157,931,013 | C/T | — | conflicting classifications of pathogenicity |
| rs144691858 | 7:157,931,053 | C/A | — | benign |
| rs151281414 | 7:157,931,054 | G/A | — | benign |
| rs370723272 | 7:157,931,118 | C/T | — | uncertain significance |
| rs753629701 | 7:157,931,124 | T/A | — | uncertain significance |
| rs150508509 | 7:157,931,151 | C/G | — | benign |
| rs1050536633 | 7:157,931,157 | C/T | — | uncertain significance |
| rs143944402 | 7:157,931,165 | G/A | — | uncertain significance |
| rs780621170 | 7:157,959,661 | G/A | — | uncertain significance |
| rs759052108 | 7:157,959,715 | G/A | — | uncertain significance |
| rs374277702 | 7:157,959,725 | G/A | — | uncertain significance |
| rs73745196 | 7:157,959,794 | T/C | — | benign |
| rs139278439 | 7:157,959,802 | G/A | — | uncertain significance |
| rs556225629 | 7:157,959,815 | G/A | — | uncertain significance |
| rs112343839 | 7:157,959,870 | G/T | — | benign |
| rs368033293 | 7:157,959,877 | C/T | — | likely benign |
| rs199954744 | 7:157,959,878 | G/A | — | uncertain significance |
| rs768448161 | 7:157,959,887 | G/A | — | uncertain significance |
| rs73745197 | 7:157,959,888 | G/A | — | benign |
| rs144856548 | 7:157,959,893 | C/T | — | conflicting classifications of pathogenicity |
| rs1130496 | 7:157,959,895 | C/T | missense variant | — |
| rs1130495 | 7:157,959,911 | A/G | missense variant | — |
| rs140999965 | 7:157,959,943 | G/C | — | likely benign |
| rs78784885 | 7:157,959,965 | C/T | — | benign |
| rs192850596 | 7:157,959,973 | C/T | — | uncertain significance |
| rs529051784 | 7:157,968,294 | G/A | — | — |
| rs138589982 | 7:157,985,027 | G/A | — | uncertain significance |
| rs752408069 | 7:157,985,041 | G/A | — | uncertain significance |
| rs143506590 | 7:157,985,044 | G/A | — | likely benign |
| rs150864882 | 7:157,985,088 | G/A | — | benign |
| rs201044710 | 7:157,985,128 | A/C | — | uncertain significance |
| rs149999873 | 7:157,985,138 | C/T | — | likely benign |
| rs3800855 | 7:157,985,149 | C/G | missense variant | — |
| rs141067391 | 7:157,985,163 | G/A | — | likely benign |
| rs1174854362 | 7:157,985,176 | T/C | — | uncertain significance |
Showing 100 of 128 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.