ARID5A
AT-Rich Interaction Domain 5A: A Key Regulator of B-Cell Development and Inflammatory Signaling
Gene Information Card
| Symbol | ARID5A |
|---|---|
| Full Name | AT-Rich Interaction Domain 5A |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 10865 ncbi.nlm.nih.gov/gene/10865 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q03989 |
| OMIM ID | 608568 |
| HGNC ID | 17361 |
| Aliases | MRF1, MODD, FLJ11606 |
Description
ARID5A (AT-Rich Interaction Domain 5A) encodes a member of the ARID family of DNA-binding proteins. The protein functions as a transcription factor involved in chromatin remodeling, B-cell development, and regulation of inflammatory responses. It binds to AT-rich sequences in DNA and interacts with histone-modifying enzymes. ARID5A is implicated in susceptibility to childhood acute lymphoblastic leukemia (ALL) and rheumatoid arthritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Lymphoblastic Leukemia (ALL) | ARID5A variants (e.g., rs10821936) are associated with increased risk of childhood ALL, potentially through altered B-cell differentiation and proliferation. | ClinVar, OMIM |
| Rheumatoid Arthritis | Polymorphisms in ARID5A are linked to rheumatoid arthritis susceptibility, possibly via modulation of inflammatory cytokine expression. | OMIM, NCBI |
| Systemic Lupus Erythematosus | ARID5A variants may contribute to SLE risk through dysregulation of immune cell development. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Lymph Node | 7.9 | Low |
| Testis | 6.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HEK 293 (embryonic kidney) | 9.8 | Medium expression |
| HeLa (cervical carcinoma) | 7.1 | Low expression |
| HepG2 (liver carcinoma) | 4.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs10821936 | SNP | ~30% in ALL cases | Intronic variant associated with increased ALL risk |
| rs10994982 | SNP | ~20% in rheumatoid arthritis | Associated with disease susceptibility |
| c.1003C>T (p.Arg335Trp) | Missense | Rare | Potential loss of DNA-binding activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the DNA-binding domain (e.g., p.Arg335Trp) may reduce transcriptional activity.
Gain of Function (GOF)
Not well characterized; some variants may enhance inflammatory gene expression.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • Chromatin binding |
| • Regulation of B-cell differentiation | • Inflammatory response |
| • Negative regulation of transcription by RNA polymerase II |
Pathways
• B-cell receptor signaling pathway
• Chromatin remodeling
• Cytokine signaling in immune system
Protein Summary
ARID5A is a 593-amino acid protein containing an AT-rich interaction domain (ARID) that mediates sequence-specific DNA binding. It localizes to the nucleus and interacts with histone deacetylases and other chromatin modifiers to regulate gene expression. The protein plays a critical role in B-cell development and immune homeostasis. Structural studies show that the ARID domain forms a helix-turn-helix motif that binds to AT-rich DNA sequences.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID5A Knockout HEK293 Cell Line | EDJ-KQ2784 | Human | 10865 | Details Get a Quote |
| ARID5A Knockout A-549 Cell Line | EDJ-KQ22338 | Human | 10865 | Details Get a Quote |
| ARID5A Knockout HCT 116 Cell Line | EDJ-KQ23705 | Human | 10865 | Details Get a Quote |
| ARID5A Knockout HeLa Cell Line | EDJ-KQ23706 | Human | 10865 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
