GENE NAME | BAZ1B |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000009954 |
ENTREZ ID | 9031 |
UNIPROT ACCESSION NUMBER | Q9UIG0 |
GO MOLECULAR FUNCTION | protein binding; transferase activity; kinase activity; ATP binding; nucleotide binding; histone binding; protein tyrosine kinase activity; non-membrane spanning protein tyrosine kinase activity; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-5250913; R-HSA-212165; R-HSA-5250924; R-HSA-5250924; R-HSA-212165; R-HSA-5250913; R-HSA-73894; R-HSA-5693532; R-HSA-5693565; R-HSA-5693606; R-HSA-74160; R-HSA-5693565; R-HSA-5693606; R-HSA-5693532; R-HSA-73894; R-HSA-74160 |
2 combinations linked to BAZ1B | OLI336; OLI340 |
2 variants linked to BAZ1B | BAZ1B:c.3804_3821dupGGAGGAGGAGGAAGAAGA, p.Glu1268_Glu1273dup; BAZ1B:c.1364G>A, p.Arg455Gln |
1 disease linked to BAZ1B | Isolated Klippel-Feil syndrome |