ARID1B (AT-Rich Interaction Domain 1B)
Chromatin remodeler and tumor suppressor implicated in Coffin-Siris syndrome and multiple cancers
Gene Information Card
| Symbol | ARID1B |
|---|---|
| Full Name | AT-rich interaction domain 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 57492 ncbi.nlm.nih.gov/gene/57492 |
| Ensembl ID | ENSG00000049618 |
| UniProt ID | Q8NFD5 |
| OMIM ID | 614556 |
| HGNC ID | 18040 |
| Aliases | BRG1-binding protein, BAF250b, DAN15, ELD/OSA1, p250R |
Description
ARID1B encodes a subunit of the SWI/SNF chromatin remodeling complex (also known as BAF complex). This protein contains an AT-rich interaction domain and is involved in ATP-dependent chromatin remodeling, which regulates gene expression by altering nucleosome positioning. ARID1B is essential for normal development and acts as a tumor suppressor. Mutations in ARID1B are associated with Coffin-Siris syndrome (a developmental disorder) and various cancers, including ovarian, gastric, and breast cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome | Haploinsufficiency due to loss-of-function mutations in ARID1B leads to impaired chromatin remodeling and dysregulation of genes critical for development. | ClinVar, OMIM |
| Intellectual disability (autosomal dominant) | Pathogenic variants in ARID1B cause syndromic intellectual disability, often with speech delay and facial dysmorphism. | ClinVar, OMIM |
| Ovarian cancer | Somatic mutations (frameshift, nonsense) in ARID1B are frequently found in ovarian clear cell carcinoma and endometrioid carcinoma, contributing to tumorigenesis via loss of tumor suppressor function. | COSMIC, ClinVar |
| Gastric cancer | ARID1B mutations are recurrent in gastric cancer, leading to loss of chromatin remodeling activity and promoting genomic instability. | COSMIC |
| Breast cancer | Somatic alterations in ARID1B have been reported in breast cancer, potentially affecting gene expression pathways involved in cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High |
| HeLa | 12.1 | Medium |
| MCF7 | 9.8 | Medium |
| A549 | 7.5 | Low |
| K562 | 6.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2282delC (p.Pro761LeufsTer5) | Frameshift | Rare in population; recurrent in cancer | Loss of function; truncated protein |
| c.3457C>T (p.Arg1153Ter) | Nonsense | Rare; seen in Coffin-Siris syndrome | Loss of function; premature stop codon |
| c.1234A>G (p.Lys412Glu) | Missense | Very rare; uncertain significance | Unknown; possibly damaging |
| c.5678+1G>A | Splice site | Rare; in cancer | Loss of function; aberrant splicing |
Mutation functional classification
Loss of Function (LOF)
Most ARID1B mutations are loss-of-function (frameshift, nonsense, splice site) leading to haploinsufficiency or complete loss of protein, contributing to developmental disorders and cancer.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARID1B.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting the BAF complex assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • Chromatin binding |
| • ATP-dependent chromatin remodeler activity | • Regulation of transcription by RNA polymerase II |
| • Nucleosome remodeling |
Pathways
• SWI/SNF complex pathway
• Chromatin organization
• Transcriptional regulation by BAF complex
Protein Summary
ARID1B is a large protein (approximately 230 kDa) that serves as a scaffold for the SWI/SNF chromatin remodeling complex. It contains an AT-rich interaction domain (ARID) that binds DNA, and it interacts with other BAF subunits to regulate gene expression. ARID1B is involved in cell cycle control, DNA repair, and differentiation. Its loss is associated with genomic instability and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID1B Knockout HEK293 Cell Line | EDJ-KQ2848 | Human | 57492 | Details Get a Quote |
| ARID1B Knockout A-549 Cell Line | EDJ-KQ23851 | Human | 57492 | Details Get a Quote |
| ARID1B Knockout HCT 116 Cell Line | EDJ-KQ23852 | Human | 57492 | Details Get a Quote |
| ARID1B Knockout HeLa Cell Line | EDJ-KQ23853 | Human | 57492 | Details Get a Quote |
