PTPRK
protein tyrosine phosphatase receptor type K
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 two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs41285280 | 6:128,291,649 | C/T | intron variant | — |
| rs55743914 | 6:128,293,562 | C/T | regulatory region variant | — |
| rs72975913 | 6:128,293,932 | C/A | intron variant | — |
| rs751611291 | 6:128,294,168 | G/A | — | uncertain significance |
| rs771714409 | 6:128,294,240 | C/T | — | uncertain significance |
| rs370374055 | 6:128,294,241 | G/A | — | uncertain significance |
| rs1161496257 | 6:128,294,250 | T/C | — | uncertain significance |
| rs779184617 | 6:128,294,259 | C/T | — | uncertain significance |
| rs2535305865 | 6:128,294,261 | A/T | — | uncertain significance |
| rs2535309481 | 6:128,294,947 | T/C | — | uncertain significance |
| rs2535341189 | 6:128,302,272 | C/T | — | uncertain significance |
| rs1413853270 | 6:128,302,350 | T/C | — | uncertain significance |
| rs2535341801 | 6:128,302,355 | C/T | — | uncertain significance |
| rs2535342038 | 6:128,302,410 | G/C | — | uncertain significance |
| rs35140919 | 6:128,302,417 | G/C | — | benign |
| rs2535348707 | 6:128,304,028 | A/G | — | uncertain significance |
| rs576979836 | 6:128,304,412 | C/T | — | uncertain significance |
| rs201396562 | 6:128,306,977 | G/A | — | uncertain significance |
| rs762712619 | 6:128,307,001 | C/T | — | uncertain significance |
| rs200372095 | 6:128,311,994 | C/T | — | uncertain significance |
| rs373153257 | 6:128,319,990 | A/G | — | uncertain significance |
| rs201761262 | 6:128,320,016 | C/T | — | uncertain significance |
| rs2535418900 | 6:128,320,019 | C/A | — | uncertain significance |
| rs776256048 | 6:128,326,270 | A/G | — | uncertain significance |
| rs146950732 | 6:128,326,276 | T/A | — | uncertain significance |
| rs1436393002 | 6:128,326,289 | G/C | — | uncertain significance |
| rs752995547 | 6:128,330,309 | G/T | — | uncertain significance |
| rs1778773265 | 6:128,330,315 | T/A | — | uncertain significance |
| rs1778782615 | 6:128,330,404 | G/A | — | uncertain significance |
| rs189112644 | 6:128,353,434 | T/C | intron variant | — |
| rs9321108 | 6:128,375,645 | G/C | — | — |
| rs4895829 | 6:128,379,093 | C/T | — | — |
| rs762251977 | 6:128,385,921 | C/T | — | uncertain significance |
| rs751529805 | 6:128,388,706 | T/G | — | uncertain significance |
| rs1394498557 | 6:128,388,752 | T/C | — | uncertain significance |
| rs775635931 | 6:128,388,901 | G/T | — | uncertain significance |
| rs2535731522 | 6:128,388,927 | T/C | — | uncertain significance |
| rs6938574 | 6:128,390,980 | T/C | intron variant | — |
| rs4544930 | 6:128,394,889 | T/C | intron variant | — |
| rs1784307866 | 6:128,399,977 | C/T | — | uncertain significance |
| rs1482980901 | 6:128,400,045 | T/C | — | uncertain significance |
| rs1784995048 | 6:128,403,624 | A/G | — | uncertain significance |
| rs141536662 | 6:128,404,862 | C/T | — | uncertain significance |
| rs11962559 | 6:128,404,875 | G/A | — | benign |
| rs549289586 | 6:128,410,876 | C/T | — | uncertain significance |
| rs199513206 | 6:128,410,915 | T/C | — | uncertain significance |
| rs61757810 | 6:128,410,935 | G/A | — | benign |
| rs770375325 | 6:128,410,978 | T/C | — | uncertain significance |
| rs1407205940 | 6:128,410,987 | C/T | — | uncertain significance |
| rs149802467 | 6:128,410,992 | G/C | — | uncertain significance |
| rs41439546 | 6:128,411,972 | G/C | intron variant | — |
| rs10499138 | 6:128,492,182 | A/C | — | — |
| rs188849778 | 6:128,493,990 | C/T | intron variant | — |
| rs754612668 | 6:128,505,604 | G/A | — | uncertain significance |
| rs2536184132 | 6:128,505,706 | C/A | — | uncertain significance |
| rs1012049 | 6:128,530,307 | G/A | regulatory region variant | — |
| rs761448355 | 6:128,540,153 | G/A | — | uncertain significance |
| rs2482016539 | 6:128,540,160 | C/G | — | uncertain significance |
| rs774523572 | 6:128,540,189 | C/T | — | uncertain significance |
| rs1414630227 | 6:128,561,199 | T/C | — | uncertain significance |
| rs1339197 | 6:128,608,211 | G/A | intron variant | — |
| rs11966128 | 6:128,609,148 | A/G | intron variant | — |
| rs374096394 | 6:128,643,177 | T/C | — | likely benign |
| rs61757812 | 6:128,643,194 | T/C | — | likely benign |
| rs2326681 | 6:128,649,407 | G/A | regulatory region variant | — |
| rs141428509 | 6:128,718,737 | T/C | — | uncertain significance |
| rs199678395 | 6:128,718,818 | T/C | — | uncertain significance |
| rs1891150 | 6:128,763,429 | A/G | intron variant | — |
| rs11756545 | 6:128,813,895 | T/C | regulatory region variant | — |
| rs564496981 | 6:128,841,407 | C/T | — | uncertain significance |
| rs2128448468 | 6:128,841,437 | G/A | — | uncertain significance |
| rs147407880 | 6:128,841,439 | G/A | — | uncertain significance |
| rs1217084813 | 6:128,841,445 | G/A | — | uncertain significance |
| rs755860640 | 6:128,841,485 | C/G | — | uncertain significance |
| rs2483705713 | 6:128,841,488 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.