CPE
carboxypeptidase E
Summary
This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1452620983 | 4:166,300,379 | C/G | — | likely benign |
| rs1293683673 | 4:166,300,387 | G/T | — | uncertain significance |
| rs565869186 | 4:166,300,401 | C/A | — | uncertain significance |
| rs1188254668 | 4:166,300,416 | G/A | — | uncertain significance |
| rs896963496 | 4:166,300,436 | G/T | — | uncertain significance |
| rs1217703812 | 4:166,300,439 | C/A | — | likely benign |
| rs536627016 | 4:166,300,450 | A/C | — | uncertain significance |
| rs949851535 | 4:166,300,461 | C/G | — | uncertain significance |
| rs770785440 | 4:166,300,580 | G/A | — | likely benign |
| rs148489430 | 4:166,300,588 | C/T | — | likely benign |
| rs756215788 | 4:166,300,606 | C/A | — | uncertain significance |
| rs747677877 | 4:166,300,650 | C/T | — | likely benign |
| rs545284100 | 4:166,305,757 | G/C | — | — |
| rs10222703 | 4:166,317,198 | C/T | intron variant | — |
| rs28409044 | 4:166,337,461 | C/A | intron variant | — |
| rs9308105 | 4:166,337,800 | C/T | intron variant | — |
| rs56238507 | 4:166,344,705 | T/C | intron variant | — |
| rs28655881 | 4:166,345,258 | A/G | — | — |
| rs74602566 | 4:166,345,939 | G/T | intron variant | — |
| rs1317332155 | 4:166,385,595 | C/T | — | pathogenic |
| rs762963410 | 4:166,385,615 | G/A | — | likely benign |
| rs568666068 | 4:166,385,617 | C/T | — | uncertain significance |
| rs1298858763 | 4:166,385,639 | C/A | — | pathogenic |
| rs140774899 | 4:166,385,651 | C/T | — | likely benign |
| rs2478170165 | 4:166,385,664 | A/C | — | uncertain significance |
| rs371855900 | 4:166,385,730 | G/A | — | uncertain significance |
| rs780735154 | 4:166,385,731 | C/T | — | uncertain significance |
| rs2478176145 | 4:166,388,844 | G/T | — | uncertain significance |
| rs144727363 | 4:166,388,900 | C/T | — | uncertain significance |
| rs778955407 | 4:166,388,925 | T/C | — | uncertain significance |
| rs147923491 | 4:166,388,933 | G/A | — | likely benign |
| rs368903815 | 4:166,388,935 | G/A | — | likely benign |
| rs59371445 | 4:166,389,013 | G/A | — | benign |
| rs1253155015 | 4:166,403,413 | C/G | — | uncertain significance |
| rs193118404 | 4:166,403,417 | C/A | — | benign |
| rs371049668 | 4:166,403,440 | C/G | — | uncertain significance |
| rs2478210331 | 4:166,403,464 | A/G | — | uncertain significance |
| rs762207857 | 4:166,403,465 | T/C | — | likely benign |
| rs2478210424 | 4:166,403,489 | T/A | — | pathogenic |
| rs199819898 | 4:166,403,492 | A/G | — | likely benign |
| rs80117208 | 4:166,403,504 | G/A | — | benign |
| rs376055726 | 4:166,403,505 | C/T | — | uncertain significance |
| rs202187157 | 4:166,403,521 | C/A | — | likely benign |
| rs572029817 | 4:166,405,570 | C/G | — | likely benign |
| rs4690821 | 4:166,405,584 | C/T | — | benign |
| rs145229675 | 4:166,405,592 | G/C | — | uncertain significance |
| rs758176349 | 4:166,405,594 | T/G | — | uncertain significance |
| rs184912639 | 4:166,405,608 | C/T | — | likely benign |
| rs137887294 | 4:166,405,619 | A/G | — | uncertain significance |
| rs142408232 | 4:166,405,630 | C/T | — | uncertain significance |
| rs374345764 | 4:166,405,652 | C/T | — | uncertain significance |
| rs765113959 | 4:166,405,664 | A/G | — | uncertain significance |
| rs116683740 | 4:166,405,670 | A/G | — | benign |
| rs202048102 | 4:166,405,672 | C/T | — | uncertain significance |
| rs138641684 | 4:166,405,684 | C/T | — | uncertain significance |
| rs372078133 | 4:166,405,694 | A/C | — | uncertain significance |
| rs150784271 | 4:166,405,721 | C/T | — | uncertain significance |
| rs201133905 | 4:166,405,728 | C/T | — | benign |
| rs773083460 | 4:166,405,746 | C/T | — | likely benign |
| rs762947355 | 4:166,405,747 | G/A | — | uncertain significance |
| rs139195612 | 4:166,405,751 | C/T | — | uncertain significance |
| rs202153664 | 4:166,405,759 | G/A | — | likely benign |
| rs776780602 | 4:166,408,587 | C/T | — | uncertain significance |
| rs147233167 | 4:166,408,656 | A/C | — | uncertain significance |
| rs1442814949 | 4:166,408,684 | C/T | — | likely benign |
| rs2478222652 | 4:166,408,688 | T/C | — | uncertain significance |
| rs747273604 | 4:166,408,719 | A/G | — | uncertain significance |
| rs140738622 | 4:166,414,347 | G/A | — | benign |
| rs2478233648 | 4:166,414,359 | C/T | — | pathogenic |
| rs956945391 | 4:166,414,361 | A/G | — | likely benign |
| rs144687736 | 4:166,414,386 | A/G | — | benign |
| rs1313147771 | 4:166,416,742 | A/G | — | uncertain significance |
| rs774981303 | 4:166,416,760 | T/G | — | likely benign |
| rs142920534 | 4:166,416,765 | C/T | — | likely benign |
| rs202238519 | 4:166,416,771 | C/T | — | uncertain significance |
| rs17046554 | 4:166,416,793 | A/C | — | benign |
| rs141075309 | 4:166,416,806 | G/A | — | uncertain significance |
| rs1451976804 | 4:166,416,817 | C/G | — | uncertain significance |
| rs2478238652 | 4:166,416,839 | C/A | — | likely benign |
| rs560038598 | 4:166,418,697 | A/G | — | likely benign |
| rs140816537 | 4:166,418,725 | A/G | — | likely benign |
| rs112824368 | 4:166,418,753 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.