CPB2
carboxypeptidase B2
Summary
Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138269290 | 13:46,627,806 | A/G | — | likely benign |
| rs755862179 | 13:46,627,837 | A/G | — | uncertain significance |
| rs9534300 | 13:46,629,225 | A/G | — | — |
| rs1390568950 | 13:46,629,903 | T/C | — | uncertain significance |
| rs1926447 | 13:46,629,944 | A/G | missense variant | benign |
| rs754773221 | 13:46,629,966 | C/T | — | uncertain significance |
| rs184648402 | 13:46,629,978 | C/A | — | uncertain significance |
| rs2277440 | 13:46,638,826 | A/G | — | benign |
| rs374776365 | 13:46,638,842 | G/A | — | uncertain significance |
| rs145262149 | 13:46,638,844 | A/G | — | likely benign |
| rs9534302 | 13:46,640,055 | C/T | intron variant | — |
| rs6561283 | 13:46,640,837 | A/G | intron variant | — |
| rs7336360 | 13:46,641,081 | T/A | intron variant | — |
| rs9526137 | 13:46,641,249 | A/G | intron variant | — |
| rs9526138 | 13:46,641,263 | G/T | — | — |
| rs9316179 | 13:46,641,466 | A/G | — | benign |
| rs7337140 | 13:46,641,481 | T/C | — | benign |
| rs9534305 | 13:46,642,156 | G/C | — | — |
| rs9562635 | 13:46,642,992 | T/C | intron variant | — |
| rs9562636 | 13:46,643,024 | T/C | intron variant | — |
| rs17844080 | 13:46,644,405 | T/A | — | — |
| rs4942471 | 13:46,644,493 | C/T | intron variant | — |
| rs9534309 | 13:46,647,537 | C/G | intron variant | — |
| rs200231942 | 13:46,648,047 | T/C | — | likely benign |
| rs3742264 | 13:46,648,094 | T/C | — | benign |
| rs1022951 | 13:46,649,454 | G/A | intron variant | — |
| rs9534311 | 13:46,650,121 | A/G | intron variant | — |
| rs9534313 | 13:46,650,546 | A/G | intron variant | — |
| rs9567615 | 13:46,651,080 | A/C | intron variant | — |
| rs9567617 | 13:46,651,108 | C/G | intron variant | — |
| rs11574989 | 13:46,652,995 | A/G | — | benign |
| rs997489030 | 13:46,653,035 | A/G | — | uncertain significance |
| rs117188827 | 13:46,655,217 | C/T | intron variant | — |
| rs374795711 | 13:46,656,607 | G/A | — | uncertain significance |
| rs140871119 | 13:46,656,611 | C/A | — | likely benign |
| rs2296642 | 13:46,656,669 | A/G | — | benign |
| rs1269800448 | 13:46,658,361 | G/A | — | uncertain significance |
| rs2549297033 | 13:46,658,373 | C/T | — | uncertain significance |
| rs368381615 | 13:46,658,432 | T/G | — | uncertain significance |
| rs754560558 | 13:46,661,959 | G/C | — | likely benign |
| rs17844150 | 13:46,679,206 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.