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ARID5B

ARID5B

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ARID5B gene?

The official name of this gene is “AT rich interactive domain 5B (MRF1-like).”

ARID5B is the gene's official symbol. The ARID5B gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ARID5B gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the ARID5B gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the ARID5B gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ARID5B gene's known or predicted involvement in human disease.

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.[1]This link leads to a site outside Genetics Home Reference. Disease susceptibility is associated with variations affecting the gene represented in this entry.

UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the ARID5B gene located?

Cytogenetic Location: 10q21.2

Molecular Location on chromosome 10: base pairs 61,901,253 to 62,096,947

The ARID5B gene is located on the long (q) arm of chromosome 10 at position 21.2.

The ARID5B gene is located on the long (q) arm of chromosome 10 at position 21.2.

More precisely, the ARID5B gene is located from base pair 61,901,253 to base pair 62,096,947 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ARID5B?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ARID5B gene or gene products?

  • DESRT
  • MRF2
  • MRF-2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ARID5B?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: September 15, 2014