| GENE NAME | SETD2 |
| CHROMOSOME | 3 |
| ENSEMBL ID | ENSG00000181555 |
| ENTREZ ID | 29072 |
| UNIPROT ACCESSION NUMBER | Q9BYW2 |
| GO MOLECULAR FUNCTION | protein binding; histone methyltransferase activity (H3-K36 specific); protein-lysine N-methyltransferase activity; alpha-tubulin binding; histone-lysine N-methyltransferase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-4839726; R-HSA-3214841; hsa01100; hsa00310; R-HSA-3247509 |
| 3 combinations linked to SETD2 | OLI707; OLI751; OLI733 |
| 3 variants linked to SETD2 | SETD2:c.6686T>G, p.Val2229Gly; SETD2:c.5368C>T, p.Arg1790Trp; SETD2:c.3131G>A, p.Ser1044Asn |
| 1 disease linked to SETD2 | Isolated anencephaly |