KDM2B

The human KDM2B gene encodes the protein lysine (K)-specific demethylase 2B.4O648467830841ENSG00000089094ENSMUSG00000029475Q8NHM5Q6P1G2NM_001005366NM_032590NM_001003953NM_001005866NM_013910NP_001005366NP_115979NP_001003953NP_038938KDM2B is broadly and highly expressed in embryonic tissues (especially in the developing central nervous system of vertebrates). Expression of KDM2B is also retained in most organs in adults. The protein is present in the nucleoplasm and is enriched in the nucleolus where it binds the transcribed region of ribosomal RNA to represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation.KDM2B protein has several domains including a JmjC domain that has a histone demethylase activity demethylating trimethylated Lys-4 and dimethylated Lys-36 of histone H3. It is also the core scaffold of the non-canonical polycomb repressive complex 1.1 (ncPRC1.1) containing BCOR, PCGF1, RING1/2 and RYBP that mono-ubiquitylates histone H2A on K119.This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined.Loss of KDM2B leads to severe developmental defects (growth defects in the brain, including failure of neural tube closure and craniofacial malformations, hematopoietic development) leading to embryonic lethalityThis article incorporates text from the United States National Library of Medicine, which is in the public domain.