EXOC4
exocyst complex component 4
Summary
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147231122 | 7:132,937,902 | C/G | — | uncertain significance |
| rs73436933 | 7:132,937,917 | C/T | — | benign |
| rs2535971058 | 7:132,937,918 | T/C | — | uncertain significance |
| rs2881034 | 7:132,950,174 | A/T | — | — |
| rs10262862 | 7:132,956,034 | C/T | intron variant | — |
| rs148842600 | 7:132,959,783 | G/T | — | uncertain significance |
| rs200320447 | 7:132,959,816 | C/T | — | uncertain significance |
| rs750885840 | 7:132,959,817 | G/C | — | uncertain significance |
| rs1183477326 | 7:132,959,883 | G/A | — | uncertain significance |
| rs1356331651 | 7:132,959,894 | C/T | — | uncertain significance |
| rs11977339 | 7:132,970,674 | C/T | intron variant | — |
| rs550387931 | 7:132,973,721 | C/T | — | uncertain significance |
| rs2536077450 | 7:132,973,745 | A/G | — | uncertain significance |
| rs777512800 | 7:132,973,857 | C/T | — | uncertain significance |
| rs2536127195 | 7:132,990,722 | T/C | — | uncertain significance |
| rs769104059 | 7:132,990,770 | C/T | — | uncertain significance |
| rs140653799 | 7:132,990,791 | G/A | — | uncertain significance |
| rs2536162498 | 7:133,002,040 | C/A | — | uncertain significance |
| rs1363557706 | 7:133,002,076 | T/C | — | uncertain significance |
| rs776194165 | 7:133,002,126 | A/G | — | uncertain significance |
| rs138281330 | 7:133,002,129 | G/A | — | uncertain significance |
| rs143291638 | 7:133,041,163 | C/G | — | uncertain significance |
| rs545267730 | 7:133,041,180 | C/T | — | uncertain significance |
| rs1796024362 | 7:133,041,288 | A/C | — | uncertain significance |
| rs369312406 | 7:133,041,294 | G/C | — | uncertain significance |
| rs772554686 | 7:133,041,305 | G/A | — | uncertain significance |
| rs370517844 | 7:133,041,316 | G/C | — | uncertain significance |
| rs1445976599 | 7:133,059,682 | C/G | — | uncertain significance |
| rs766289665 | 7:133,059,685 | C/G | — | uncertain significance |
| rs369040208 | 7:133,059,739 | A/G | — | uncertain significance |
| rs6949831 | 7:133,081,470 | G/T | — | — |
| rs7803848 | 7:133,108,547 | C/T | intron variant | — |
| rs958408 | 7:133,140,918 | A/G | intron variant | — |
| rs1038630 | 7:133,149,821 | A/G | intron variant | — |
| rs10254118 | 7:133,158,353 | T/A | intron variant | — |
| rs200535304 | 7:133,160,119 | G/A | — | uncertain significance |
| rs1333813020 | 7:133,160,125 | C/A | — | uncertain significance |
| rs1798987327 | 7:133,160,154 | G/A | — | uncertain significance |
| rs752662890 | 7:133,160,178 | G/C | — | uncertain significance |
| rs768440625 | 7:133,164,870 | T/C | — | likely benign |
| rs761705485 | 7:133,164,875 | G/A | — | uncertain significance |
| rs6967776 | 7:133,243,248 | G/A | intron variant | — |
| rs2345667 | 7:133,244,149 | C/T | — | — |
| rs17167170 | 7:133,302,345 | A/G | intron variant | — |
| rs17658042 | 7:133,302,371 | G/C | — | — |
| rs751273688 | 7:133,314,812 | A/G | — | uncertain significance |
| rs748463481 | 7:133,314,842 | G/T | — | uncertain significance |
| rs10488172 | 7:133,335,176 | T/A | — | — |
| rs763645 | 7:133,343,428 | C/T | intron variant | — |
| rs1362739 | 7:133,430,934 | C/G | — | — |
| rs4728298 | 7:133,436,768 | T/A | intron variant | — |
| rs2551023 | 7:133,472,662 | A/C | intron variant | — |
| rs2160746 | 7:133,478,204 | G/A | — | — |
| rs1461392422 | 7:133,502,176 | A/G | — | likely benign |
| rs149782824 | 7:133,502,211 | G/A | — | benign |
| rs730882233 | 7:133,502,296 | A/G | missense variant | pathogenic |
| rs200087953 | 7:133,575,017 | A/G | — | — |
| rs201376358 | 7:133,579,006 | T/C | — | — |
| rs376345518 | 7:133,580,376 | G/A | — | uncertain significance |
| rs775480288 | 7:133,580,400 | C/G | — | uncertain significance |
| rs149312476 | 7:133,580,430 | C/G | — | uncertain significance |
| rs959853913 | 7:133,580,457 | G/A | — | uncertain significance |
| rs145963456 | 7:133,580,479 | C/T | — | uncertain significance |
| rs7810870 | 7:133,581,473 | C/G | intron variant | — |
| rs7793739 | 7:133,582,973 | G/T | intron variant | — |
| rs6958557 | 7:133,585,794 | T/G | intron variant | — |
| rs758777671 | 7:133,602,340 | A/G | — | uncertain significance |
| rs745576312 | 7:133,602,430 | A/G | — | uncertain significance |
| rs4422723 | 7:133,606,158 | A/T | intron variant | — |
| rs6954712 | 7:133,618,853 | G/A | intron variant | — |
| rs774701379 | 7:133,622,661 | A/C | — | uncertain significance |
| rs146653246 | 7:133,622,720 | C/T | — | uncertain significance |
| rs377450937 | 7:133,622,755 | G/C | — | uncertain significance |
| rs1800344628 | 7:133,622,814 | C/T | — | uncertain significance |
| rs10243750 | 7:133,627,654 | T/A | intron variant | — |
| rs28588750 | 7:133,629,138 | A/G | intron variant | — |
| rs4728302 | 7:133,630,463 | C/T | regulatory region variant | — |
| rs10258052 | 7:133,635,874 | T/C | intron variant | — |
| rs2346268 | 7:133,642,742 | G/A | regulatory region variant | — |
| rs76170958 | 7:133,656,714 | G/T | intron variant | — |
| rs34608222 | 7:133,682,285 | C/T | — | benign |
| rs146827346 | 7:133,682,336 | G/A | — | likely benign |
| rs2485978203 | 7:133,682,377 | T/A | — | uncertain significance |
| rs750938818 | 7:133,689,682 | A/G | — | uncertain significance |
| rs370327688 | 7:133,689,729 | G/C | — | uncertain significance |
| rs2485993203 | 7:133,689,750 | C/G | — | uncertain significance |
| rs766823344 | 7:133,689,798 | A/G | — | uncertain significance |
| rs778325501 | 7:133,692,461 | A/G | — | uncertain significance |
| rs201940150 | 7:133,692,557 | A/G | — | uncertain significance |
| rs11770757 | 7:133,747,946 | G/C | — | — |
| rs934708466 | 7:133,749,130 | A/G | — | uncertain significance |
| rs116591309 | 7:133,749,134 | C/T | — | benign |
| rs372175359 | 7:133,749,138 | G/A | — | uncertain significance |
| rs1223871786 | 7:133,749,190 | A/G | — | uncertain significance |
| rs183441634 | 7:133,749,213 | A/C | — | uncertain significance |
| rs1438763079 | 7:133,749,276 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.