ARID5B
AT-Rich Interaction Domain 5B: A Key Regulator of Development and Cancer Susceptibility
Gene Information Card
| Symbol | ARID5B |
|---|---|
| Full Name | AT-Rich Interaction Domain 5B |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.2 |
| NCBI Gene ID | 84159 ncbi.nlm.nih.gov/gene/84159 |
| Ensembl ID | ENSG00000150347 |
| UniProt ID | Q14865 |
| OMIM ID | 608538 |
| HGNC ID | 17362 |
| Aliases | MRF1, DESRT, FLJ11117, FLJ21013, FLJ90687 |
Description
ARID5B (AT-Rich Interaction Domain 5B) encodes a member of the ARID family of DNA-binding proteins. This transcription factor plays a critical role in embryonic development, cell growth, and differentiation. It is involved in chromatin remodeling and gene expression regulation. Genetic variants in ARID5B are associated with susceptibility to acute lymphoblastic leukemia (ALL) and rheumatoid arthritis. The protein interacts with histone deacetylases and other regulatory complexes to modulate transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Lymphoblastic Leukemia (ALL) | Risk-associated SNPs (e.g., rs7089424) in ARID5B are linked to increased susceptibility to childhood ALL, possibly through altered gene expression affecting B-cell development. | Multiple genome-wide association studies (GWAS) and meta-analyses (e.g., Treviño et al., 2009; Xu et al., 2013) |
| Rheumatoid Arthritis | ARID5B variants (e.g., rs10821944) are associated with increased risk of rheumatoid arthritis, potentially through modulation of immune cell function. | GWAS studies (e.g., Okada et al., 2014) |
| Systemic Lupus Erythematosus | Polymorphisms in ARID5B have been implicated in SLE susceptibility in some populations. | Case-control studies (e.g., Zhang et al., 2012) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Testis | 8.1 | Medium |
| Brain | 6.4 | Low |
| Heart | 5.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HEK 293 (embryonic kidney) | 8.7 | Moderate expression |
| HeLa (cervical cancer) | 7.1 | Moderate expression |
| HepG2 (liver cancer) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs7089424 (intronic) | SNP | ~30% in European populations | Risk allele (G) associated with increased ALL susceptibility; may alter ARID5B expression levels. |
| rs10821944 (intronic) | SNP | ~25% in Asian populations | Risk allele (A) associated with rheumatoid arthritis; potential regulatory effect. |
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Predicted loss-of-function; observed in some cancer samples (COSMIC). |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing DNA-binding and transcriptional activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter target gene specificity.
Dominant Negative (DN)
Not reported for ARID5B.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Chromatin binding (GO:0003682) |
| • Regulation of transcription by RNA polymerase II (GO:0006357) | • Embryonic development (GO:0009790) |
| • Cell differentiation (GO:0030154) |
Pathways
• Chromatin remodeling (Reactome: R-HSA-5250913)
• Transcriptional regulation by RUNX1 (Reactome: R-HSA-8878171)
• B-cell receptor signaling (Reactome: R-HSA-983705)
Protein Summary
ARID5B is a 1,188-amino-acid protein containing an AT-rich interaction domain (ARID) that mediates sequence-specific DNA binding. It functions as a transcription factor, often repressing target genes by recruiting histone deacetylase complexes. The protein is involved in cell cycle control, differentiation, and development. ARID5B is widely expressed, with highest levels in hematopoietic tissues. Its dysregulation contributes to cancer and autoimmune diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID5B Knockout HEK293 Cell Line | EDJ-KQ2204 | Human | 84159 | Details Get a Quote |
| ARID5B Knockout HCT 116 Cell Line | EDJ-KQ21145 | Human | 84159 | Details Get a Quote |
| ARID5B Knockout A-549 Cell Line | EDJ-KQ22452 | Human | 84159 | Details Get a Quote |
| ARID5B Knockout HeLa Cell Line | EDJ-KQ22454 | Human | 84159 | Details Get a Quote |
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