ARID5B

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

AT rich interactive domain 5B (MRF1-like)

Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer.

Adipose tissue development Source: UniProtKB
Adrenal gland development Source: Ensembl
Cell development Source: Ensembl
Cellular response to leukemia inhibitory factor Source: Ensembl
Face morphogenesis Source: Ensembl
Fat cell differentiation Source: Ensembl
Fat pad development Source: Ensembl
Female gonad development Source: Ensembl
Fibroblast migration Source: Ensembl
Kidney development Source: Ensembl
Liver development Source: UniProtKB
Male gonad development Source: Ensembl
Multicellular organism growth Source: Ensembl
Muscle organ morphogenesis Source: Ensembl
Negative regulation of transcription, DNA-templated Source: GDB
Negative regulation of transcription by RNA polymerase II Source: NTNU_SB
Nitrogen compound metabolic process Source: Ensembl
Platelet-derived growth factor receptor signaling pathway Source: Ensembl
Positive regulation of DNA-binding transcription factor activity Source: UniProtKB
Post-embryonic development Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Roof of mouth development Source: Ensembl
Skeletal system morphogenesis Source: Ensembl

Nucleus

Defects in ARID5B may be a cause of susceptibility to coronary atherosclerosis in the Japanese population.
Leukemia, acute lymphoblastic (ALL): A subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes.

Methylation at Lys-336 prevents DNA-binding. Demethylation by PHF2 promotes recruitment of the PHF2-ARID5B complex to promoters.