KDM6B

The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di-or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

KDM6B

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17825402, PubMed:17851529, PubMed:17713478, PubMed:18003914).
Demethylates trimethylated and dimethylated H3 'Lys-27' (PubMed:17825402, PubMed:17851529, PubMed:17713478, PubMed:18003914).
Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529).
Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation (PubMed:17825402).
Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression by acting as a link between T-box factors and the SMARCA4-containing SWI/SNF remodeling complex (By similarity).

Cardiac muscle cell differentiationBy SimilarityISS:BHF-UCL
Cell fate commitmentIEA:Ensembl
Cellular response to hydrogen peroxideIEA:Ensembl
Chromatin remodelingISS:UniProtKB
Endothelial cell differentiationBy SimilarityISS:BHF-UCL
Heart developmentManual Assertion Based On ExperimentIBA:GO_Central
Histone H3-K27 demethylationManual Assertion Based On ExperimentIMP:UniProtKB
Inflammatory responseIEA:UniProtKB-KW
Mesodermal cell differentiationBy SimilarityISS:BHF-UCL
Positive regulation of cold-induced thermogenesisBy SimilarityISS:YuBioLab
Positive regulation of transcription by RNA polymerase IIBy SimilarityISS:BHF-UCL
Regulation of gene expressionManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA):
An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly.