| GENE NAME | RNF216 |
| CHROMOSOME | 7 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000011275 |
| UNIPROT ACCESSION NUMBER | Q9NWF9 |
| GO MOLECULAR FUNCTION | ['ubiquitin protein ligase activity', 'protein binding', 'metal ion binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-168249; R-HSA-168256; R-HSA-168928; R-HSA-936440 |
| 9 combinations linked to RNF216 | OLI1416; OLI816; OLI1397; OLI302; OLI354; OLI1543; OLI1541; OLI018; OLI1524 |
| 9 variants linked to RNF216 | RNF216:c.2374G>A, p.Asp792Asn; RNF216:c.2251C>T, p.Arg751Cys; RNF216:c.745G>T, p.Val249Phe; RNF216:c.106G>A, p.Asp36Asn; RNF216:c.1717C>T, p.Arg573Cys; RNF216:c.2149C>T, p.Arg717Cys; RNF216:c.785G>A, p.Arg262His; RNF216:c.422G>T, p.Gly141Val; RNF216:c.1471C>A, p.Gln491Lys |
| 6 diseases linked to RNF216 | 46,XY disorder of sex development; Congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Normosmic congenital hypogonadotropic hypogonadism; Cerebellar ataxia-hypogonadism syndrome; Kallmann syndrome |