CELA2A
chymotrypsin like elastase 2A
Summary
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147042451 | 1:15,783,644 | C/T | — | uncertain significance |
| rs150024502 | 1:15,788,083 | A/C | — | likely benign |
| rs372947070 | 1:15,788,135 | C/T | — | pathogenic |
| rs776751440 | 1:15,789,235 | A/G | — | uncertain significance |
| rs148630095 | 1:15,789,247 | G/A | — | uncertain significance |
| rs558493952 | 1:15,789,253 | C/A | — | likely pathogenic |
| rs1708455026 | 1:15,789,319 | G/A | — | uncertain significance |
| rs1352544800 | 1:15,789,885 | G/A | — | pathogenic |
| rs2901964 | 1:15,792,426 | C/T | coding sequence variant | — |
| rs2526352419 | 1:15,792,496 | A/T | — | uncertain significance |
| rs914223517 | 1:15,792,500 | G/A | — | uncertain significance |
| rs778462885 | 1:15,792,530 | G/A | — | uncertain significance |
| rs61746995 | 1:15,792,568 | G/A | — | uncertain significance |
| rs199536952 | 1:15,792,632 | G/C | — | uncertain significance |
| rs765126729 | 1:15,792,638 | A/G | — | uncertain significance |
| rs752331004 | 1:15,792,640 | G/C | — | pathogenic |
| rs139163441 | 1:15,793,924 | G/A | — | likely benign |
| rs776835636 | 1:15,793,938 | G/A | — | uncertain significance |
| rs376888050 | 1:15,793,992 | G/A | — | uncertain significance |
| rs147045735 | 1:15,794,032 | C/T | — | uncertain significance |
| rs72865183 | 1:15,795,380 | C/T | intron variant | — |
| rs188524036 | 1:15,798,603 | T/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.