ARID5B (AT rich interactive domain 5B (MRF1-like))
2013-08-01 Heng Xu , Jun J Yang AffiliationDepartment of Pharmaceutical Sciences, St. Jude Childrens Research Hospital, 262 DannyThomas Place, MS 313, Memphis, TN 38105-2794, USA
Identity
HGNC
LOCATION
10q21.2
LOCUSID
ALIAS
DESRT,MRF-2,MRF2
FUSION GENES
DNA/RNA
Illustration of transcriptions of human ARID5B gene.
Description
The ARID5B gene is composed of 10 exons spanning ~200 kb on chr 10q21.2. Two alternative splicing variants have been identified. Both transcripts share exons 5 to 10 but the short isoform (7032 bp) lacks a portion of the 5 coding region of the long transcript (7948 bp).
Proteins
Expression
ARID5B is expressed is in a variety of tissues and cell types, particularly in uterus, smooth muscle, placenta, and CD19+ B cells.
Localisation
ARID5B contains nuclei location signal (NLS) and may primarily function as a transcription regulator within the nucleus.
Function
ARID5B was identified as one of the intermediate early effector genes of the platelet-derived growth factor (PDGF). It forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. ARID5B also plays a role in hematopoietic cell development and differentiation, plausibly as a transcription factor.
Implicated in
Entity name
Acute lymphoblastic leukemia (ALL)
Note
Single nucleotide polymorphisms (SNPs) in this gene (e.g., rs10821936) are strongly associated with susceptibility to childhood ALL, particularly hyperdiploid B-lineage ALL. Also, ARID5B SNPs were also related to ALL relapse, with the disease susceptibility alleles always linked to poorer treatment outcome. However, the molecular mechanisms of how ARID5B contributes to leukemogenesis and relapse remain unclear.
Entity name
Endometrial carcinoma
Note
Recurrent somatic mutations in ARID5B have also been described in endometrial carcinoma and is particularly enriched in the MSI subtype (23,1%).
Entity name
Rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE)
Note
SNPs in this gene (e.g., rs10821944 in RA and rs4948496 in SLE) are associated with RA and SLE, both of which are autoimmune diseases but with distinct clinical characteristics.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 21532585 | 2011 | PKA-dependent regulation of the histone lysine demethylase complex PHF2-ARID5B. | Baba A et al |
| 23636398 | 2013 | Integrated genomic characterization of endometrial carcinoma. | Kandoth C et al |
| 11483573 | 2001 | Gene targeting of Desrt, a novel ARID class DNA-binding protein, causes growth retardation and abnormal development of reproductive organs. | Lahoud MH et al |
| 21241896 | 2011 | Densely interconnected transcriptional circuits control cell states in human hematopoiesis. | Novershtern N et al |
| 22446963 | 2012 | Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. | Okada Y et al |
| 19684604 | 2009 | Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. | Papaemmanuil E et al |
| 15640446 | 2005 | DNA-binding properties of ARID family proteins. | Patsialou A et al |
| 17143286 | 2007 | PDGF signaling specificity is mediated through multiple immediate early genes. | Schmahl J et al |
| 19684603 | 2009 | Germline genomic variants associated with childhood acute lymphoblastic leukemia. | Treviño LR et al |
| 22971728 | 2012 | Associations of variations in the MRF2/ARID5B gene with susceptibility to type 2 diabetes in the Japanese population. | Wang G et al |
| 22291082 | 2012 | ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia. | Xu H et al |
| 23512250 | 2013 | Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. | Xu H et al |
| 23273568 | 2013 | Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. | Yang W et al |
| 9808040 | 1998 | A novel DNA-binding motif shares structural homology to DNA replication and repair nucleases and polymerases. | Yuan YC et al |
Other Information
Locus ID:
NCBI: 84159
MIM: 608538
HGNC: 17362
Ensembl: ENSG00000150347
Variants:
dbSNP: 84159
ClinVar: 84159
TCGA: ENSG00000150347
COSMIC: ARID5B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000150347 | ENST00000279873 | Q14865 |
| ENSG00000150347 | ENST00000309334 | Q14865 |
| ENSG00000150347 | ENST00000644638 | A0A2R8Y5F2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| HDMs demethylate histones | REACTOME | R-HSA-3214842 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA446155 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | Disease | ClinicalAnnotation | associated | PK | 24712521 | |
| PA449841 | haloperidol | Chemical | MultilinkAnnotation | associated | 27023437 | ||
| PA450428 | methotrexate | Chemical | ClinicalAnnotation | associated | PK | 24712521 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37578068 | 2024 | ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia. | 0 |
| 38224186 | 2024 | ARID5B-mediated LINC01128 epigenetically activated pyroptosis and apoptosis by promoting the formation of the BTF3/STAT3 complex in β2GPI/anti-β2GPI-treated monocytes. | 0 |
| 38738968 | 2024 | Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia. | 0 |
| 37578068 | 2024 | ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia. | 0 |
| 38224186 | 2024 | ARID5B-mediated LINC01128 epigenetically activated pyroptosis and apoptosis by promoting the formation of the BTF3/STAT3 complex in β2GPI/anti-β2GPI-treated monocytes. | 0 |
| 38738968 | 2024 | Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia. | 0 |
| 36708585 | 2023 | Association of two ARID5B gene variant single nucleotide polymorphisms with acute lymphoblastic leukemia in the Egyptian population. | 0 |
| 36952466 | 2023 | Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population. | 0 |
| 37096502 | 2023 | [Correlation between ARID5B Gene SNP and MTX Resistance in Children with ALL]. | 0 |
| 37483604 | 2023 | ARID5B regulates fatty acid metabolism and proliferation at the Pre-B cell stage during B cell development. | 0 |
| 37948999 | 2023 | ARID5B promoted the histone demethylation of SORBS2 and hampered the metastasis of ovarian cancer. | 1 |
| 36708585 | 2023 | Association of two ARID5B gene variant single nucleotide polymorphisms with acute lymphoblastic leukemia in the Egyptian population. | 0 |
| 36952466 | 2023 | Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population. | 0 |
| 37096502 | 2023 | [Correlation between ARID5B Gene SNP and MTX Resistance in Children with ALL]. | 0 |
| 37483604 | 2023 | ARID5B regulates fatty acid metabolism and proliferation at the Pre-B cell stage during B cell development. | 0 |
Citation
Heng Xu ; Jun J Yang
ARID5B (AT rich interactive domain 5B (MRF1-like))
Atlas Genet Cytogenet Oncol Haematol. 2013-08-01
Online version: http://atlasgeneticsoncology.org/gene/51529/arid5b-(at-rich-interactive-domain-5b-(mrf1-like))
