KDM3B
Domain
Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to mediate the association with nuclear receptors.
Function
Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity.
Involvement in disease
Diets-Jongmans syndrome
DIJOS
An autosomal dominant disorder characterized by varying degrees of intellectual disability, developmental delay, short stature, and characteristic facial features such as a wide mouth, a pointed chin, long ears and a low columella.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the JHDM2 histone demethylase family.
Tissue Specificity
Ubiquitous. Highly expressed in placenta, skeletal muscle, kidney, heart and liver.
Cellular localization
- Nucleus
Alternative names
C5orf7, JHDM2B, JMJD1B, KIAA1082, KDM3B, Lysine-specific demethylase 3B, JmjC domain-containing histone demethylation protein 2B, Jumonji domain-containing protein 1B, Nuclear protein 5qNCA, [histone H3]-dimethyl-L-lysine(9) demethylase 3B