PALS2
protein associated with LIN7 2, MAGUK p55 family member
Summary
Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2529090 | 7:24,662,280 | C/G | intron variant | — |
| rs771283348 | 7:24,663,347 | G/A | — | uncertain significance |
| rs575627503 | 7:24,681,294 | C/A | intron variant | — |
| rs2534728980 | 7:24,681,368 | G/C | — | uncertain significance |
| rs890140413 | 7:24,689,264 | A/G | — | uncertain significance |
| rs1167316822 | 7:24,689,295 | A/G | — | uncertain significance |
| rs2534770783 | 7:24,690,128 | A/C | — | uncertain significance |
| rs764429109 | 7:24,690,167 | A/G | — | uncertain significance |
| rs752093173 | 7:24,690,174 | G/A | — | uncertain significance |
| rs1289934881 | 7:24,690,201 | T/A | — | uncertain significance |
| rs368896893 | 7:24,690,216 | A/G | — | uncertain significance |
| rs17149773 | 7:24,690,277 | A/G | — | benign |
| rs760237573 | 7:24,690,279 | G/A | — | uncertain significance |
| rs2721800 | 7:24,692,552 | G/T | — | — |
| rs767911744 | 7:24,703,215 | G/T | — | uncertain significance |
| rs199927855 | 7:24,703,307 | G/T | — | uncertain significance |
| rs2534829220 | 7:24,705,289 | G/A | — | uncertain significance |
| rs375634417 | 7:24,708,272 | G/A | — | likely benign |
| rs79210963 | 7:24,717,969 | T/C | upstream gene variant | — |
| rs1787787329 | 7:24,718,830 | A/G | — | uncertain significance |
| rs1787791819 | 7:24,718,899 | A/G | — | uncertain significance |
| rs17149856 | 7:24,720,073 | G/A | — | benign |
| rs770512027 | 7:24,720,078 | A/G | — | uncertain significance |
| rs376370471 | 7:24,720,087 | G/A | — | uncertain significance |
| rs1159349066 | 7:24,727,113 | C/A | — | uncertain significance |
| rs749972521 | 7:24,727,201 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.