GENE NAME | KDM6A |
CHROMOSOME | X |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000147050 |
UNIPROT ACCESSION NUMBER | O15550 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'chromatin DNA binding', 'histone demethylase activity', 'protein binding', 'metal ion binding', 'histone H3-tri/di-methyl-lysine-27 demethylase activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa05202; R-HSA-1266738; R-HSA-3214842; R-HSA-3247509; R-HSA-4839726; R-HSA-5617472; R-HSA-5619507 |
1 combination linked to KDM6A | OLI1328 |
1 variant linked to KDM6A | KDM6A:c.1402T>C, |
1 disease linked to KDM6A | Primary immunodeficiency |