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 | OLI1531; OLI1526; OLI744; OLI705; OLI711; OLI1539; OLI756 |
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 |