CELA2B
chymotrypsin like elastase 2B
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 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35828133 | 1:15,801,178 | A/T | — | — |
| rs150801399 | 1:15,803,015 | C/T | — | likely benign |
| rs200158570 | 1:15,807,620 | C/A | — | likely benign |
| rs202130301 | 1:15,807,638 | G/A | — | uncertain significance |
| rs756679268 | 1:15,807,672 | C/T | — | uncertain significance |
| rs199804944 | 1:15,808,771 | T/C | — | likely benign |
| rs568648004 | 1:15,808,806 | G/A | — | uncertain significance |
| rs762333807 | 1:15,808,818 | G/A | — | uncertain significance |
| rs751797790 | 1:15,808,830 | G/A | — | uncertain significance |
| rs769388813 | 1:15,809,793 | G/A | — | uncertain significance |
| rs1168277315 | 1:15,812,480 | G/A | — | uncertain significance |
| rs768856027 | 1:15,812,509 | G/C | — | uncertain significance |
| rs758493749 | 1:15,813,817 | A/T | — | uncertain significance |
| rs145701728 | 1:15,813,822 | C/T | — | uncertain significance |
| rs376020731 | 1:15,813,823 | G/A | — | likely benign |
| rs61742388 | 1:15,813,836 | T/C | — | benign |
| rs3737704 | 1:15,813,969 | A/T | — | — |
| rs9659443 | 1:15,815,922 | G/C | — | — |
| rs12045879 | 1:15,817,090 | C/A | — | — |
| rs755142262 | 1:15,817,794 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.