| GENE NAME | CUBN |
| CHROMOSOME | 10 |
| ENSEMBL ID | ENSG00000107611 |
| ENTREZ ID | 8029 |
| UNIPROT ACCESSION NUMBER | O60494 |
| GO MOLECULAR FUNCTION | signaling receptor activity; cobalamin binding; cargo receptor activity; calcium ion binding; metal ion binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-174824; R-HSA-382551; R-HSA-1430728; R-HSA-3359462; R-HSA-556833; R-HSA-3359463; R-HSA-3296482; R-HSA-1643685; R-HSA-196849; hsa04977; R-HSA-196854; R-HSA-8964011; R-HSA-196741; R-HSA-3296469; R-HSA-5668914; R-HSA-8957322; R-HSA-8964043; R-HSA-196791 |
| 6 combinations linked to CUBN | OLI700; OLI726; OLI758; OLI714; OLI729; OLI698 |
| 6 variants linked to CUBN | CUBN:c.3356T>C, p.Leu1119Ser; CUBN:c.7406C>T, p.Pro2469Leu; CUBN:c.8279T>C, p.Ile2760Thr; CUBN:c.7646C>T, p.Thr2549Met; CUBN:c.8071G>A, p.Gly2691Arg; CUBN:c.9340G>A, p.Gly3114Ser |
| 1 disease linked to CUBN | Isolated anencephaly |