PTPN4
protein tyrosine phosphatase non-receptor type 4
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760213839 | 2:120,567,472 | G/A | — | uncertain significance |
| rs751852893 | 2:120,567,524 | A/C | — | uncertain significance |
| rs368669233 | 2:120,567,544 | A/G | — | uncertain significance |
| rs1199991850 | 2:120,567,566 | A/G | — | uncertain significance |
| rs2466894996 | 2:120,567,569 | T/C | — | likely pathogenic |
| rs78986663 | 2:120,606,427 | G/A | intron variant | — |
| rs767649368 | 2:120,620,114 | A/T | — | uncertain significance |
| rs754446836 | 2:120,620,145 | G/A | — | uncertain significance |
| rs1677776998 | 2:120,620,164 | T/G | — | uncertain significance |
| rs917654500 | 2:120,620,220 | G/T | — | likely pathogenic |
| rs2466986294 | 2:120,634,904 | G/T | — | uncertain significance |
| rs1452498687 | 2:120,634,923 | A/G | — | uncertain significance |
| rs762333568 | 2:120,635,062 | C/A | — | uncertain significance |
| rs753539446 | 2:120,639,392 | C/A | — | uncertain significance |
| rs138361206 | 2:120,640,084 | C/A | — | likely benign |
| rs1678147693 | 2:120,643,369 | A/G | — | uncertain significance |
| rs2466997898 | 2:120,643,378 | T/C | — | uncertain significance |
| rs779166189 | 2:120,643,418 | G/A | — | uncertain significance |
| rs2105005142 | 2:120,643,442 | A/C | — | uncertain significance |
| rs61748154 | 2:120,658,328 | T/C | — | benign |
| rs1678390512 | 2:120,658,333 | G/A | — | uncertain significance |
| rs2467016183 | 2:120,658,340 | T/C | — | uncertain significance |
| rs1451229797 | 2:120,658,363 | C/T | — | pathogenic |
| rs2467016215 | 2:120,658,366 | A/C | — | uncertain significance |
| rs748637374 | 2:120,658,370 | A/G | — | uncertain significance |
| rs550473525 | 2:120,672,774 | T/G | — | likely benign |
| rs2467040605 | 2:120,677,676 | A/G | — | uncertain significance |
| rs537200066 | 2:120,677,679 | T/C | — | uncertain significance |
| rs142256215 | 2:120,677,695 | A/G | — | likely benign |
| rs147821849 | 2:120,677,742 | G/A | — | likely benign |
| rs199855189 | 2:120,684,192 | A/G | — | likely benign |
| rs1385383192 | 2:120,684,232 | G/A | — | uncertain significance |
| rs143014480 | 2:120,690,071 | A/G | — | uncertain significance |
| rs2467057573 | 2:120,690,072 | C/G | — | uncertain significance |
| rs778139713 | 2:120,690,101 | G/A | — | uncertain significance |
| rs771641866 | 2:120,690,112 | G/C | — | uncertain significance |
| rs2105039543 | 2:120,692,432 | A/G | — | uncertain significance |
| rs76063791 | 2:120,692,506 | G/A | — | likely benign |
| rs147418905 | 2:120,692,535 | G/A | — | likely pathogenic |
| rs1486869036 | 2:120,702,773 | T/A | — | uncertain significance |
| rs753457428 | 2:120,702,779 | A/G | — | uncertain significance |
| rs548907312 | 2:120,702,797 | C/T | — | uncertain significance |
| rs779935545 | 2:120,702,814 | A/G | — | uncertain significance |
| rs1679132634 | 2:120,703,936 | A/T | — | uncertain significance |
| rs778508595 | 2:120,703,940 | T/G | — | uncertain significance |
| rs2289580 | 2:120,704,166 | G/T | — | benign |
| rs143843154 | 2:120,709,036 | G/A | intron variant | — |
| rs2467085138 | 2:120,709,550 | C/A | — | uncertain significance |
| rs369570605 | 2:120,709,586 | A/G | — | uncertain significance |
| rs1679218434 | 2:120,709,630 | G/T | — | likely pathogenic |
| rs750591561 | 2:120,712,741 | G/A | — | uncertain significance |
| rs141362505 | 2:120,712,838 | G/A | — | uncertain significance |
| rs759085979 | 2:120,712,846 | A/T | — | uncertain significance |
| rs143331305 | 2:120,712,858 | G/A | — | likely benign |
| rs1257783620 | 2:120,714,422 | A/G | — | uncertain significance |
| rs143662385 | 2:120,714,505 | C/T | — | uncertain significance |
| rs2467092150 | 2:120,714,595 | A/T | — | uncertain significance |
| rs779332065 | 2:120,714,640 | C/G | — | uncertain significance |
| rs763403760 | 2:120,718,419 | A/G | — | uncertain significance |
| rs763728268 | 2:120,718,452 | A/G | — | uncertain significance |
| rs1242269386 | 2:120,718,493 | G/A | — | uncertain significance |
| rs370860064 | 2:120,718,521 | C/T | — | uncertain significance |
| rs369578318 | 2:120,720,222 | A/G | — | uncertain significance |
| rs2105059931 | 2:120,720,249 | C/T | — | pathogenic |
| rs754962291 | 2:120,720,298 | A/G | — | likely benign |
| rs1679433867 | 2:120,723,086 | G/A | — | uncertain significance |
| rs2467103501 | 2:120,723,094 | A/G | — | uncertain significance |
| rs2105061652 | 2:120,723,128 | G/A | — | uncertain significance |
| rs1679434397 | 2:120,723,154 | C/A | — | uncertain significance |
| rs1403136551 | 2:120,723,170 | A/G | — | uncertain significance |
| rs1259252500 | 2:120,723,175 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.