Covered on Genetics Home Reference: rheumatoid arthritisFrom UniProt: 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 lymphonodes. [MIM:613065]

     From NCBI Gene: 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. [provided by RefSeq, Sep 2011] From UniProt: 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.

The following transcription factors affect gene expression:

• PPAR-gamma1
• PPAR-gamma2
• C/EBPbeta
• C/EBPalpha
• MRF-2

Tissue specificity:

Widely expressed, including in liver (at protein level).

Molecular Function:

• Rna Polymerase Ii Regulatory Region Sequence-Specific Dna Binding
• Transcriptional Repressor Activity, Rna Polymerase Ii Transcription Regulatory Region Sequence-Specific Binding
• Dna Binding
• Histone Demethylase Activity
• Transcription Regulatory Region Dna Binding

Biological Processes:

• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• Kidney Development
• Liver Development
• Transcription, Dna-Templated
• Male Gonad Development
• Female Gonad Development
• Post-Embryonic Development
• Fibroblast Migration
• Adrenal Gland Development
• Multicellular Organism Growth
• Fat Cell Differentiation
• Negative Regulation Of Transcription, Dna-Templated
• Platelet-Derived Growth Factor Receptor Signaling Pathway
• Cell Development
• Muscle Organ Morphogenesis
• Skeletal System Morphogenesis
• Positive Regulation Of Sequence-Specific Dna Binding Transcription Factor Activity
• Palate Development
• Face Morphogenesis
• Adipose Tissue Development
• Fat Pad Development