PATJ
PATJ crumbs cell polarity complex component
Summary
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2523706877 | 1:62,232,136 | G/T | — | uncertain significance |
| rs2523778353 | 1:62,234,970 | T/C | — | uncertain significance |
| rs369574882 | 1:62,239,319 | C/T | — | — |
| rs79388226 | 1:62,241,015 | A/G | — | benign |
| rs74891019 | 1:62,245,463 | T/C | intron variant | — |
| rs142273680 | 1:62,253,583 | C/A | — | likely benign |
| rs115241683 | 1:62,253,601 | T/C | — | benign |
| rs375861494 | 1:62,267,297 | A/G | — | uncertain significance |
| rs150291494 | 1:62,267,321 | C/T | missense variant | — |
| rs374668002 | 1:62,267,391 | A/G | — | uncertain significance |
| rs556613542 | 1:62,293,125 | G/T | — | uncertain significance |
| rs376386795 | 1:62,293,184 | C/T | — | uncertain significance |
| rs41289422 | 1:62,321,734 | G/T | — | likely benign |
| rs138909420 | 1:62,321,759 | G/A | — | uncertain significance |
| rs116544267 | 1:62,327,304 | G/C | — | benign |
| rs112548443 | 1:62,329,993 | A/G | — | benign |
| rs4915787 | 1:62,330,134 | G/A | — | benign |
| rs371333095 | 1:62,341,024 | C/G | — | likely benign |
| rs2526428506 | 1:62,349,926 | G/A | — | uncertain significance |
| rs116844048 | 1:62,365,321 | G/A | — | likely benign |
| rs150836159 | 1:62,374,104 | G/T | — | uncertain significance |
| rs199888620 | 1:62,380,262 | A/G | — | uncertain significance |
| rs1056513 | 1:62,380,298 | G/C | missense variant | — |
| rs143643054 | 1:62,393,426 | A/G | — | uncertain significance |
| rs1027119284 | 1:62,483,535 | A/G | — | uncertain significance |
| rs201609033 | 1:62,483,560 | C/G | — | uncertain significance |
| rs75900825 | 1:62,483,586 | C/T | — | benign |
| rs74076514 | 1:62,545,246 | T/C | — | benign |
| rs1049629257 | 1:62,557,439 | T/A | — | — |
| rs144958861 | 1:62,574,186 | A/G | — | uncertain significance |
| rs201514515 | 1:62,579,757 | C/T | — | likely benign |
| rs144983546 | 1:62,579,809 | G/T | — | uncertain significance |
| rs189945042 | 1:62,579,834 | G/A | — | uncertain significance |
| rs200722945 | 1:62,582,235 | G/A | — | uncertain significance |
| rs775754273 | 1:62,582,250 | G/A | — | uncertain significance |
| rs749652182 | 1:62,593,645 | A/C | — | uncertain significance |
| rs201576062 | 1:62,593,682 | A/G | — | benign |
| rs141549230 | 1:62,593,737 | G/A | — | uncertain significance |
| rs187417242 | 1:62,594,536 | T/A | — | benign |
| rs538522968 | 1:62,597,230 | G/C | — | — |
| rs574399046 | 1:62,607,042 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.