KDM6B / JMJD3

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17825402, PubMed:17851529, PubMed:18003914). Demethylates trimethylated and dimethylated H3 'Lys-27' (PubMed:17713478, PubMed:17825402, PubMed:17851529, 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).

Stolerman neurodevelopmental syndrome

NEDSST

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the UTX family.

• Nucleus

JMJD3, KIAA0346, KDM6B, Lysine-specific demethylase 6B, JmjC domain-containing protein 3, Jumonji domain-containing protein 3, Lysine demethylase 6B, [histone H3]-trimethyl-L-lysine(27) demethylase 6B

• entrezGene:23135
• omim:611577
• swissprot:O15054

Proteins

Epigenetics

176632Da