MPP7
MAGUK p55 scaffold protein 7
Summary
The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs543107477 | 10:28,340,288 | T/G | — | — |
| rs1851455212 | 10:28,343,020 | C/A | — | uncertain significance |
| rs377548845 | 10:28,345,446 | G/A | — | uncertain significance |
| rs769152875 | 10:28,345,486 | C/G | — | uncertain significance |
| rs765492482 | 10:28,345,498 | G/A | — | uncertain significance |
| rs199919302 | 10:28,347,454 | G/C | — | uncertain significance |
| rs554214509 | 10:28,347,473 | C/T | — | uncertain significance |
| rs35450618 | 10:28,347,474 | G/A | — | uncertain significance |
| rs767929744 | 10:28,347,491 | G/A | — | uncertain significance |
| rs2494719624 | 10:28,347,519 | C/T | — | uncertain significance |
| rs148937697 | 10:28,348,585 | T/C | — | uncertain significance |
| rs1449503978 | 10:28,348,634 | C/G | — | uncertain significance |
| rs2494728679 | 10:28,348,640 | C/T | — | uncertain significance |
| rs578191058 | 10:28,358,776 | C/T | — | uncertain significance |
| rs868850825 | 10:28,378,660 | C/T | — | uncertain significance |
| rs746532119 | 10:28,378,746 | A/C | — | uncertain significance |
| rs145943944 | 10:28,378,749 | C/T | — | uncertain significance |
| rs2495013806 | 10:28,378,759 | T/G | — | uncertain significance |
| rs927675 | 10:28,382,933 | A/C | intron variant | — |
| rs10763642 | 10:28,388,150 | G/A | intron variant | — |
| rs201702118 | 10:28,398,911 | T/A | — | — |
| rs200096291 | 10:28,408,616 | A/T | — | uncertain significance |
| rs775616676 | 10:28,408,627 | C/T | — | uncertain significance |
| rs2538350217 | 10:28,409,146 | G/C | — | uncertain significance |
| rs912035836 | 10:28,409,172 | C/T | — | uncertain significance |
| rs756973181 | 10:28,409,213 | C/T | — | uncertain significance |
| rs766806940 | 10:28,409,294 | T/A | — | uncertain significance |
| rs1834805744 | 10:28,409,554 | C/T | — | uncertain significance |
| rs145331707 | 10:28,409,566 | A/G | — | uncertain significance |
| rs200243111 | 10:28,409,581 | G/A | — | uncertain significance |
| rs201024463 | 10:28,409,582 | C/G | — | uncertain significance |
| rs147670270 | 10:28,412,983 | G/C | — | uncertain significance |
| rs777876178 | 10:28,413,960 | C/G | — | uncertain significance |
| rs200070555 | 10:28,420,560 | T/C | — | uncertain significance |
| rs373507998 | 10:28,420,574 | G/C | — | uncertain significance |
| rs145809120 | 10:28,420,579 | G/A | — | likely benign |
| rs145596649 | 10:28,420,620 | T/C | — | likely benign |
| rs4317882 | 10:28,424,177 | G/T | — | — |
| rs773689377 | 10:28,438,913 | C/T | — | uncertain significance |
| rs182366447 | 10:28,438,937 | G/A | — | uncertain significance |
| rs1263445728 | 10:28,438,940 | G/A | — | uncertain significance |
| rs141840017 | 10:28,438,951 | G/A | — | uncertain significance |
| rs186810838 | 10:28,438,984 | T/A | — | uncertain significance |
| rs1937810 | 10:28,463,950 | T/C | intron variant | — |
| rs11006914 | 10:28,478,492 | C/T | intron variant | — |
| rs3905706 | 10:28,479,942 | C/T | intron variant | — |
| rs201119298 | 10:28,491,192 | C/T | — | uncertain significance |
| rs6481512 | 10:28,504,187 | T/C | intron variant | — |
| rs11006923 | 10:28,504,944 | T/A | — | — |
| rs7070175 | 10:28,511,245 | T/C | intron variant | — |
| rs150806746 | 10:28,527,518 | T/C | — | uncertain significance |
| rs11006952 | 10:28,541,879 | C/G | intron variant | — |
| rs1148186 | 10:28,617,635 | C/G | intron variant | — |
| rs703018 | 10:28,621,507 | G/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.