GENE NAME | KDM6B |
CHROMOSOME | 17 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000132510 |
UNIPROT ACCESSION NUMBER | O15054 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'beta-catenin binding', 'chromatin DNA binding', 'histone demethylase activity', 'protein binding', 'metal ion binding', 'histone H3-tri/di-methyl-lysine-27 demethylase activity'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-2262752; R-HSA-2559580; R-HSA-2559583; R-HSA-3214842; R-HSA-3247509; R-HSA-4839726; R-HSA-8953897 |
1 combination linked to KDM6B | OLI1467 |
1 variant linked to KDM6B | KDM6B:c.2012_2013del, p.Phe671Ter |
1 disease linked to KDM6B | Rare pervasive developmental disorder |