CTSE
cathepsin E
Summary
This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1661521608 | 1:206,317,638 | T/C | — | uncertain significance |
| rs143511888 | 1:206,317,643 | A/T | — | uncertain significance |
| rs1661491140 | 1:206,318,334 | C/A | — | uncertain significance |
| rs141663034 | 1:206,318,351 | C/T | — | uncertain significance |
| rs367635645 | 1:206,318,352 | G/A | — | uncertain significance |
| rs1661489055 | 1:206,318,375 | T/C | — | uncertain significance |
| rs77492430 | 1:206,318,403 | T/A | missense variant | — |
| rs781951953 | 1:206,318,414 | G/A | — | uncertain significance |
| rs1041322634 | 1:206,318,429 | G/T | — | uncertain significance |
| rs199692903 | 1:206,319,101 | A/G | — | uncertain significance |
| rs1553278563 | 1:206,319,114 | G/A | — | uncertain significance |
| rs1553278527 | 1:206,319,178 | C/A | — | uncertain significance |
| rs193920960 | 1:206,319,194 | G/A | — | uncertain significance |
| rs781842616 | 1:206,320,222 | C/T | — | uncertain significance |
| rs376548326 | 1:206,320,308 | G/A | — | uncertain significance |
| rs76092913 | 1:206,320,429 | A/G | intron variant | — |
| rs141251493 | 1:206,325,253 | G/A | — | uncertain significance |
| rs201853489 | 1:206,325,337 | G/A | — | uncertain significance |
| rs2526521468 | 1:206,325,384 | C/A | — | uncertain significance |
| rs188393288 | 1:206,325,391 | G/A | — | uncertain significance |
| rs781829575 | 1:206,327,499 | G/A | — | uncertain significance |
| rs145461754 | 1:206,327,556 | C/A | — | uncertain significance |
| rs2526510611 | 1:206,327,586 | G/C | — | uncertain significance |
| rs2526502812 | 1:206,328,730 | G/A | — | uncertain significance |
| rs141402875 | 1:206,328,789 | C/T | — | uncertain significance |
| rs782814503 | 1:206,328,834 | A/C | — | uncertain significance |
| rs144940381 | 1:206,328,996 | C/T | — | uncertain significance |
| rs370863826 | 1:206,329,018 | C/T | — | likely benign |
| rs560890490 | 1:206,329,019 | G/A | — | uncertain significance |
| rs782664090 | 1:206,329,031 | A/T | — | uncertain significance |
| rs142068333 | 1:206,329,051 | C/T | — | likely benign |
| rs782291789 | 1:206,331,021 | G/C | — | uncertain significance |
| rs145069780 | 1:206,331,027 | G/A | missense variant | — |
| rs782071729 | 1:206,331,046 | G/C | — | uncertain significance |
| rs782081424 | 1:206,331,157 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.