Details for Gene KDM6A

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

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