SPPL3
signal peptide peptidase like 3
Summary
Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in T cell receptor signaling pathway; membrane protein proteolysis; and positive regulation of calcineurin-NFAT signaling cascade. Located in Golgi-associated vesicle membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6490303 | 12:121,202,952 | A/C | — | — |
| rs761474883 | 12:121,205,356 | T/C | — | uncertain significance |
| rs150882911 | 12:121,206,182 | T/C | — | uncertain significance |
| rs2499959926 | 12:121,206,185 | G/T | — | uncertain significance |
| rs2499959977 | 12:121,206,219 | G/C | — | uncertain significance |
| rs2393717 | 12:121,220,375 | G/A | — | — |
| rs679833 | 12:121,220,820 | A/C | — | — |
| rs773966772 | 12:121,222,289 | T/C | — | uncertain significance |
| rs142451007 | 12:121,222,355 | T/C | — | uncertain significance |
| rs584001 | 12:121,228,055 | G/C | — | — |
| rs708785 | 12:121,228,791 | G/C | — | — |
| rs77205232 | 12:121,231,816 | A/C | intron variant | — |
| rs1039302 | 12:121,236,258 | C/G | — | — |
| rs138213721 | 12:121,238,607 | C/T | regulatory region variant | — |
| rs144547152 | 12:121,240,214 | G/T | — | — |
| rs545647026 | 12:121,240,248 | T/G | — | — |
| rs143911453 | 12:121,248,687 | G/A | — | uncertain significance |
| rs564120 | 12:121,250,932 | T/G | — | — |
| rs186070804 | 12:121,263,788 | A/C | — | — |
| rs12825746 | 12:121,268,033 | A/C | regulatory region variant | — |
| rs532703 | 12:121,273,143 | C/G | intron variant | — |
| rs149156910 | 12:121,273,195 | A/G | intron variant | — |
| rs572016 | 12:121,279,083 | G/A | downstream gene variant | — |
| rs2461475 | 12:121,290,174 | T/C | intron variant | — |
| rs2461476 | 12:121,290,250 | T/A | — | — |
| rs609700 | 12:121,297,487 | A/G | intron variant | — |
| rs660549 | 12:121,300,988 | T/C | intron variant | — |
| rs113573045 | 12:121,305,463 | G/T | — | — |
| rs141346429 | 12:121,306,178 | C/T | intron variant | — |
| rs656933 | 12:121,316,252 | A/T | — | — |
| rs59757908 | 12:121,319,417 | T/C | intron variant | — |
| rs2701174 | 12:121,325,895 | T/C | intron variant | — |
| rs187150787 | 12:121,327,809 | G/A | intron variant | — |
| rs1168948 | 12:121,330,365 | C/G | — | — |
| rs11065318 | 12:121,334,133 | C/A | intron variant | — |
| rs2393716 | 12:121,341,933 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.