| GENE NAME | ZNRF3 |
| CHROMOSOME | 22 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000183579 |
| UNIPROT ACCESSION NUMBER | Q9ULT6 |
| GO MOLECULAR FUNCTION | ['ubiquitin-protein transferase activity', 'frizzled binding', 'protein binding', 'metal ion binding', 'ubiquitin protein ligase activity'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa04310; R-HSA-162582; R-HSA-195721; R-HSA-201681; R-HSA-4641263 |
| 7 combinations linked to ZNRF3 | OLI711; OLI1539; OLI1526; OLI756; OLI705; OLI744; OLI1531 |
| 6 variants linked to ZNRF3 | ZNRF3:c.1278C>G, p.His426Gln; ZNRF3:c.766G>A, p.Val256Met; ZNRF3:c.981C>A, p.His327Gln; ZNRF3:c.2734C>A, p.Gln912Lys; ZNRF3:c.1507G>A, p.Gly503Ser; ZNRF3:c.1861G>T, p.Ala621Ser |
| 2 diseases linked to ZNRF3 | Isolated anencephaly; 46,XY disorder of sex development |