PTPRJ
protein tyrosine phosphatase receptor type J
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 containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants137 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1386421417 | 11:48,002,472 | C/T | — | uncertain significance |
| rs1853887524 | 11:48,002,549 | C/T | — | uncertain significance |
| rs1228044 | 11:48,011,180 | A/G | intron variant | — |
| rs34895872 | 11:48,021,778 | A/C | — | — |
| rs1729288 | 11:48,028,111 | C/T | regulatory region variant | — |
| rs138315285 | 11:48,064,194 | G/A | intron variant | — |
| rs189041110 | 11:48,074,840 | A/T | intron variant | — |
| rs61914721 | 11:48,079,137 | C/T | intron variant | — |
| rs12289583 | 11:48,079,704 | C/T | intron variant | — |
| rs61914723 | 11:48,080,448 | T/C | intron variant | — |
| rs1569171 | 11:48,081,252 | G/C | intron variant | — |
| rs10838798 | 11:48,091,303 | T/G | intron variant | — |
| rs7395231 | 11:48,091,689 | T/C | intron variant | — |
| rs1967210 | 11:48,096,692 | G/C | — | — |
| rs10838801 | 11:48,098,280 | G/T | — | — |
| rs3942852 | 11:48,115,089 | C/T | regulatory region variant | — |
| rs10742829 | 11:48,115,837 | T/G | — | — |
| rs1503188 | 11:48,117,478 | C/G | — | — |
| rs11600061 | 11:48,118,757 | G/A | regulatory region variant | — |
| rs147020700 | 11:48,123,661 | C/T | regulatory region variant | — |
| rs758226104 | 11:48,131,608 | A/G | — | pathogenic |
| rs146166216 | 11:48,131,613 | C/T | — | likely benign |
| rs201977385 | 11:48,131,618 | C/T | — | likely benign |
| rs762379254 | 11:48,134,313 | C/A | — | uncertain significance |
| rs2495125984 | 11:48,134,355 | A/T | — | uncertain significance |
| rs1389610492 | 11:48,134,386 | T/G | — | uncertain significance |
| rs769439087 | 11:48,134,425 | C/A | — | uncertain significance |
| rs759543022 | 11:48,134,463 | G/A | — | uncertain significance |
| rs142849806 | 11:48,134,465 | T/C | — | likely benign |
| rs1430322394 | 11:48,142,649 | C/T | — | likely benign |
| rs751658749 | 11:48,142,651 | A/C | — | uncertain significance |
| rs2134339122 | 11:48,142,665 | C/T | — | uncertain significance |
| rs369765709 | 11:48,142,710 | T/C | — | likely benign |
| rs61737868 | 11:48,142,777 | A/G | — | benign |
| rs2495150901 | 11:48,142,784 | T/A | — | likely benign |
| rs2270993 | 11:48,145,166 | G/A | splice region variant | — |
| rs775555539 | 11:48,145,168 | C/T | — | uncertain significance |
| rs121434507 | 11:48,145,188 | C/T | missense variant | pathogenic |
| rs1159007326 | 11:48,145,213 | A/G | — | uncertain significance |
| rs2270992 | 11:48,145,247 | T/A | synonymous variant | — |
| rs377571417 | 11:48,145,263 | C/T | — | uncertain significance |
| rs756013780 | 11:48,145,327 | C/T | — | uncertain significance |
| rs780296844 | 11:48,145,348 | A/T | — | uncertain significance |
| rs550302604 | 11:48,145,363 | C/T | — | likely benign |
| rs1566734 | 11:48,145,375 | A/C | missense variant | pathogenic |
| rs2495157834 | 11:48,145,391 | G/C | — | uncertain significance |
| rs2229701 | 11:48,146,522 | G/A | — | benign |
| rs1503185 | 11:48,146,622 | G/A | missense variant | — |
| rs2134344355 | 11:48,146,651 | G/C | — | uncertain significance |
| rs555104266 | 11:48,146,712 | A/G | — | uncertain significance |
| rs1168408801 | 11:48,146,718 | A/G | — | uncertain significance |
| rs1349386448 | 11:48,146,726 | G/A | — | uncertain significance |
| rs771974105 | 11:48,149,371 | G/T | — | uncertain significance |
| rs748897376 | 11:48,149,417 | G/A | — | likely benign |
| rs201275741 | 11:48,149,482 | G/A | — | likely benign |
| rs377560733 | 11:48,149,490 | C/T | — | uncertain significance |
| rs61739179 | 11:48,149,491 | G/A | — | likely benign |
| rs201570482 | 11:48,149,505 | G/A | — | uncertain significance |
| rs373741778 | 11:48,149,511 | C/T | — | uncertain significance |
| rs151256577 | 11:48,149,512 | G/A | — | likely benign |
| rs772635514 | 11:48,149,562 | G/C | — | uncertain significance |
| rs61739249 | 11:48,149,590 | A/G | — | benign |
| rs374837260 | 11:48,152,019 | C/G | — | uncertain significance |
| rs141853869 | 11:48,152,063 | C/G | — | likely benign |
| rs144207207 | 11:48,152,064 | G/A | — | conflicting classifications of pathogenicity |
| rs199624672 | 11:48,152,117 | G/C | — | uncertain significance |
| rs114829238 | 11:48,152,148 | A/G | — | benign |
| rs1393781674 | 11:48,152,245 | C/T | — | uncertain significance |
| rs1042438284 | 11:48,152,259 | A/G | — | uncertain significance |
| rs2495192093 | 11:48,157,596 | A/T | — | uncertain significance |
| rs750546441 | 11:48,157,665 | G/A | — | uncertain significance |
| rs142074473 | 11:48,157,676 | C/T | — | likely benign |
| rs199862481 | 11:48,157,717 | C/G | — | uncertain significance |
| rs371829286 | 11:48,157,812 | G/A | — | uncertain significance |
| rs749215508 | 11:48,157,820 | G/C | — | likely benign |
| rs1055961523 | 11:48,158,576 | T/C | — | uncertain significance |
| rs79602244 | 11:48,158,586 | T/A | — | benign |
| rs763072219 | 11:48,158,631 | C/A | — | likely benign |
| rs750413569 | 11:48,158,677 | A/G | — | uncertain significance |
| rs200255695 | 11:48,158,689 | G/A | — | uncertain significance |
| rs140686417 | 11:48,158,724 | C/T | — | likely benign |
| rs138339280 | 11:48,161,049 | A/G | — | likely benign |
| rs559753032 | 11:48,161,066 | C/T | — | likely benign |
| rs181029182 | 11:48,161,067 | G/A | — | uncertain significance |
| rs1857185215 | 11:48,161,116 | C/G | — | uncertain significance |
| rs200458536 | 11:48,161,126 | T/G | — | uncertain significance |
| rs148286094 | 11:48,161,170 | C/T | — | likely benign |
| rs2495201460 | 11:48,161,185 | G/A | — | uncertain significance |
| rs529042781 | 11:48,161,203 | G/A | — | uncertain significance |
| rs752756734 | 11:48,161,269 | C/T | — | uncertain significance |
| rs534721017 | 11:48,161,336 | A/G | — | likely benign |
| rs367638899 | 11:48,164,464 | G/C | — | likely benign |
| rs371234967 | 11:48,164,505 | A/C | — | likely benign |
| rs2495208117 | 11:48,164,507 | C/G | — | uncertain significance |
| rs746557862 | 11:48,164,518 | A/C | — | uncertain significance |
| rs748064728 | 11:48,164,532 | C/G | — | likely benign |
| rs2495208427 | 11:48,164,570 | A/T | — | uncertain significance |
| rs754587299 | 11:48,164,591 | C/T | — | uncertain significance |
| rs2495213736 | 11:48,166,228 | T/C | — | likely benign |
| rs757192329 | 11:48,166,260 | C/T | — | uncertain significance |
Showing 100 of 137 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.