ELAPOR2
endosome-lysosome associated apoptosis and autophagy regulator family member 2
Summary
Predicted to enable BMP receptor binding activity. Predicted to be involved in negative regulation of nervous system development; positive regulation of BMP signaling pathway; and positive regulation of epidermis development. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376938495 | 7:86,509,792 | T/C | — | uncertain significance |
| rs142358415 | 7:86,509,817 | T/G | — | uncertain significance |
| rs760720920 | 7:86,509,834 | G/A | — | uncertain significance |
| rs1788167763 | 7:86,521,081 | T/C | — | uncertain significance |
| rs199903997 | 7:86,521,107 | T/A | — | uncertain significance |
| rs140842262 | 7:86,521,143 | G/A | — | uncertain significance |
| rs199613938 | 7:86,521,173 | G/A | — | uncertain significance |
| rs747387104 | 7:86,521,174 | T/C | — | uncertain significance |
| rs2535419180 | 7:86,522,253 | C/A | — | uncertain significance |
| rs748377556 | 7:86,522,266 | T/A | — | uncertain significance |
| rs762567992 | 7:86,522,334 | G/A | — | uncertain significance |
| rs1167836590 | 7:86,522,346 | G/A | — | uncertain significance |
| rs1397750250 | 7:86,522,347 | C/A | — | likely benign |
| rs2535437740 | 7:86,526,855 | A/T | — | uncertain significance |
| rs760928278 | 7:86,526,871 | G/A | — | uncertain significance |
| rs199832873 | 7:86,526,916 | G/A | — | uncertain significance |
| rs182359446 | 7:86,526,937 | G/A | — | uncertain significance |
| rs1414001381 | 7:86,537,002 | C/T | — | uncertain significance |
| rs148212149 | 7:86,537,052 | C/T | — | uncertain significance |
| rs2535482462 | 7:86,537,077 | C/T | — | likely benign |
| rs1385971566 | 7:86,537,788 | T/C | — | uncertain significance |
| rs780292886 | 7:86,539,230 | C/T | — | uncertain significance |
| rs2535494285 | 7:86,539,254 | C/T | — | uncertain significance |
| rs2535494423 | 7:86,539,278 | A/C | — | uncertain significance |
| rs753933018 | 7:86,542,261 | T/C | — | uncertain significance |
| rs183867413 | 7:86,544,104 | T/C | — | likely benign |
| rs2535532375 | 7:86,547,769 | A/G | — | uncertain significance |
| rs200489670 | 7:86,547,793 | G/A | — | uncertain significance |
| rs1166376851 | 7:86,547,805 | C/G | — | uncertain significance |
| rs756627370 | 7:86,547,847 | T/C | — | uncertain significance |
| rs139726538 | 7:86,548,545 | G/A | — | uncertain significance |
| rs35444296 | 7:86,548,611 | C/T | — | uncertain significance |
| rs1476455 | 7:86,551,740 | C/A | intron variant | — |
| rs768175254 | 7:86,554,861 | T/A | — | uncertain significance |
| rs776162429 | 7:86,554,862 | T/C | — | uncertain significance |
| rs377125379 | 7:86,554,877 | T/C | — | uncertain significance |
| rs138544248 | 7:86,554,948 | G/C | — | uncertain significance |
| rs550056979 | 7:86,554,964 | G/A | — | uncertain significance |
| rs759466259 | 7:86,556,135 | G/A | — | uncertain significance |
| rs753409572 | 7:86,556,163 | G/A | — | uncertain significance |
| rs2535561676 | 7:86,556,214 | A/G | — | uncertain significance |
| rs763818314 | 7:86,556,222 | A/G | — | uncertain significance |
| rs1156348326 | 7:86,567,504 | G/A | — | uncertain significance |
| rs1584372494 | 7:86,567,518 | C/T | — | uncertain significance |
| rs770929735 | 7:86,568,139 | C/T | — | uncertain significance |
| rs536561029 | 7:86,568,145 | T/C | — | uncertain significance |
| rs374145370 | 7:86,569,364 | G/A | — | uncertain significance |
| rs2535616630 | 7:86,569,427 | A/G | — | uncertain significance |
| rs773658418 | 7:86,571,345 | C/T | — | uncertain significance |
| rs1252654393 | 7:86,571,353 | C/A | — | uncertain significance |
| rs939109230 | 7:86,571,401 | T/C | — | uncertain significance |
| rs754605499 | 7:86,574,267 | T/G | — | uncertain significance |
| rs2535637720 | 7:86,574,279 | T/C | — | uncertain significance |
| rs778084845 | 7:86,574,345 | C/T | — | uncertain significance |
| rs370833499 | 7:86,574,350 | G/C | — | uncertain significance |
| rs2535648648 | 7:86,577,052 | C/G | — | uncertain significance |
| rs200099758 | 7:86,669,711 | T/C | — | — |
| rs2129019716 | 7:86,688,774 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.