Details for Gene KDM6B

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

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