PTPRR
protein tyrosine phosphatase receptor type R
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 a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769043209 | 12:71,033,017 | G/A | — | uncertain significance |
| rs554017420 | 12:71,042,021 | A/T | — | — |
| rs756537179 | 12:71,054,736 | C/T | — | uncertain significance |
| rs754601847 | 12:71,056,330 | A/C | — | uncertain significance |
| rs4489789 | 12:71,058,932 | T/C | intron variant | — |
| rs2175711 | 12:71,073,513 | A/T | intron variant | — |
| rs2498991733 | 12:71,078,040 | T/A | — | uncertain significance |
| rs2203231 | 12:71,080,768 | T/C | intron variant | — |
| rs144153905 | 12:71,092,086 | G/A | — | uncertain significance |
| rs144918296 | 12:71,094,952 | C/T | — | uncertain significance |
| rs754513645 | 12:71,094,972 | C/T | — | uncertain significance |
| rs1416234693 | 12:71,094,981 | A/G | — | uncertain significance |
| rs1182467939 | 12:71,094,982 | T/A | — | uncertain significance |
| rs148722303 | 12:71,095,011 | G/T | — | uncertain significance |
| rs776866226 | 12:71,095,038 | G/A | — | uncertain significance |
| rs780122286 | 12:71,095,092 | T/C | — | uncertain significance |
| rs1398599 | 12:71,135,522 | G/T | intron variant | — |
| rs147730338 | 12:71,139,653 | C/T | — | uncertain significance |
| rs756672375 | 12:71,139,682 | C/T | — | uncertain significance |
| rs768387199 | 12:71,139,787 | G/A | — | uncertain significance |
| rs143042289 | 12:71,139,790 | G/A | — | uncertain significance |
| rs35987017 | 12:71,139,860 | A/G | — | likely benign |
| rs11178391 | 12:71,145,532 | C/T | intron variant | — |
| rs141680779 | 12:71,147,988 | T/C | — | uncertain significance |
| rs138025593 | 12:71,148,059 | T/C | — | uncertain significance |
| rs1384010919 | 12:71,148,075 | C/T | — | uncertain significance |
| rs202190339 | 12:71,155,318 | C/T | — | uncertain significance |
| rs745910524 | 12:71,155,363 | C/T | — | uncertain significance |
| rs772622877 | 12:71,155,368 | T/C | — | uncertain significance |
| rs144705265 | 12:71,158,453 | G/A | — | benign |
| rs906472439 | 12:71,158,455 | T/C | — | uncertain significance |
| rs756672523 | 12:71,158,506 | C/T | — | uncertain significance |
| rs373436060 | 12:71,158,507 | G/A | — | uncertain significance |
| rs139968754 | 12:71,158,516 | G/A | — | uncertain significance |
| rs530125141 | 12:71,160,462 | C/T | — | — |
| rs180670669 | 12:71,163,635 | G/A | intron variant | — |
| rs143311304 | 12:71,182,906 | A/G | intron variant | — |
| rs17814476 | 12:71,193,791 | G/C | intron variant | — |
| rs572070987 | 12:71,242,563 | G/A | — | — |
| rs12229663 | 12:71,249,996 | A/G | intron variant | — |
| rs11178469 | 12:71,275,137 | T/C | intron variant | — |
| rs10879211 | 12:71,278,182 | G/A | intron variant | — |
| rs766825019 | 12:71,286,485 | T/C | — | uncertain significance |
| rs1175315105 | 12:71,286,506 | G/A | — | uncertain significance |
| rs767738639 | 12:71,286,515 | C/A | — | uncertain significance |
| rs1300243069 | 12:71,286,575 | C/T | — | uncertain significance |
| rs2499539100 | 12:71,286,591 | G/T | — | uncertain significance |
| rs149684669 | 12:71,286,606 | G/A | — | likely benign |
| rs777264489 | 12:71,286,643 | G/A | — | uncertain significance |
| rs200295461 | 12:71,286,716 | G/C | — | uncertain significance |
| rs756758688 | 12:71,286,743 | T/C | — | uncertain significance |
| rs4760854 | 12:71,289,556 | G/A | intron variant | — |
| rs137984174 | 12:71,314,150 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.