PTPRA
protein tyrosine phosphatase receptor type A
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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374809862 | 20:2,854,197 | C/T | — | — |
| rs116882160 | 20:2,860,463 | C/T | intron variant | — |
| rs681167 | 20:2,899,979 | G/C | — | — |
| rs6138953 | 20:2,910,880 | T/C | — | — |
| rs557999417 | 20:2,915,613 | C/T | — | — |
| rs146856931 | 20:2,925,378 | A/G | intron variant | — |
| rs190413293 | 20:2,942,811 | A/T | intron variant | — |
| rs140259035 | 20:2,944,928 | A/T | — | uncertain significance |
| rs372995700 | 20:2,944,955 | G/T | — | uncertain significance |
| rs768363321 | 20:2,945,672 | A/G | — | uncertain significance |
| rs202217737 | 20:2,945,736 | T/G | — | uncertain significance |
| rs138944640 | 20:2,945,750 | C/T | — | uncertain significance |
| rs771931373 | 20:2,945,762 | A/G | — | uncertain significance |
| rs1177340027 | 20:2,945,791 | C/A | — | uncertain significance |
| rs763071203 | 20:2,945,797 | G/A | — | uncertain significance |
| rs574050889 | 20:2,953,073 | C/T | — | — |
| rs141624004 | 20:2,967,429 | C/T | — | uncertain significance |
| rs78716368 | 20:2,967,430 | G/A | — | benign |
| rs139490447 | 20:2,967,464 | G/A | — | uncertain significance |
| rs753859483 | 20:2,968,713 | A/G | — | uncertain significance |
| rs917284742 | 20:2,968,993 | G/A | — | uncertain significance |
| rs1342364519 | 20:2,968,995 | G/A | — | uncertain significance |
| rs568560782 | 20:2,972,644 | A/T | — | — |
| rs766919527 | 20:2,988,050 | A/G | — | uncertain significance |
| rs190393862 | 20:2,991,797 | C/T | regulatory region variant | — |
| rs765688128 | 20:2,992,210 | G/C | — | — |
| rs747339207 | 20:3,001,964 | G/A | — | uncertain significance |
| rs553920627 | 20:3,002,009 | C/T | — | uncertain significance |
| rs2516878847 | 20:3,002,051 | G/A | — | uncertain significance |
| rs762966352 | 20:3,002,717 | C/A | — | uncertain significance |
| rs1363347436 | 20:3,002,817 | G/A | — | uncertain significance |
| rs200587047 | 20:3,003,414 | G/C | — | uncertain significance |
| rs1470811825 | 20:3,003,468 | G/A | — | uncertain significance |
| rs778743622 | 20:3,005,242 | A/G | — | uncertain significance |
| rs1185420102 | 20:3,008,377 | A/G | — | uncertain significance |
| rs774971415 | 20:3,008,407 | A/G | — | uncertain significance |
| rs376456519 | 20:3,008,452 | A/G | — | uncertain significance |
| rs2065761292 | 20:3,016,303 | G/A | — | uncertain significance |
| rs778740231 | 20:3,016,317 | G/C | — | uncertain significance |
| rs140864103 | 20:3,016,333 | G/T | — | uncertain significance |
| rs2517027417 | 20:3,016,343 | T/C | — | uncertain significance |
| rs2065775934 | 20:3,016,511 | G/A | — | uncertain significance |
| rs760178574 | 20:3,016,518 | T/G | — | uncertain significance |
| rs148576102 | 20:3,016,535 | G/A | — | uncertain significance |
| rs1001855088 | 20:3,016,567 | C/G | — | uncertain significance |
| rs3787480 | 20:3,016,895 | G/A | intron variant | — |
| rs763423550 | 20:3,017,813 | A/G | — | uncertain significance |
| rs761469813 | 20:3,017,839 | C/A | — | uncertain significance |
| rs367645535 | 20:3,017,843 | G/A | — | uncertain significance |
| rs780404964 | 20:3,018,727 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.