ARID2: AT-Rich Interaction Domain 2
A core subunit of the SWI/SNF chromatin remodeling complex implicated in cancer and developmental disorders
Gene Information Card
| Symbol | ARID2 |
|---|---|
| Full Name | AT-Rich Interaction Domain 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 196528 ncbi.nlm.nih.gov/gene/196528 |
| Ensembl ID | ENSG00000189079 |
| UniProt ID | Q68CP9 |
| OMIM ID | 609539 |
| HGNC ID | 18037 |
| Aliases | BAF200, p200, SMARCF3 |
Description
ARID2 encodes a protein that is a subunit of the PBAF (polybromo-associated BAF) chromatin remodeling complex, a member of the SWI/SNF family. The protein contains an AT-rich interaction domain (ARID) and is involved in ATP-dependent chromatin remodeling, regulating transcription, DNA repair, and cell cycle progression. Mutations in ARID2 are frequently observed in cancers, particularly hepatocellular carcinoma, and are associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss-of-function mutations in ARID2 impair SWI/SNF complex activity, leading to dysregulated gene expression and tumorigenesis. | PMID: 21743469; COSMIC |
| Melanoma | ARID2 mutations contribute to chromatin remodeling defects and increased proliferation. | PMID: 22608497; COSMIC |
| Neurodevelopmental disorder | De novo missense and truncating variants in ARID2 are associated with intellectual disability and developmental delay. | PMID: 31130284; ClinVar |
| Non-small cell lung cancer | ARID2 mutations are recurrent and may cooperate with other SWI/SNF subunit alterations. | PMID: 22980975; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Brain | 6.5 | Medium |
| Lung | 5.1 | Low |
| Kidney | 7.0 | Medium |
| Testis | 9.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| A549 | 6.3 | Lung adenocarcinoma cell line |
| SK-MEL-28 | 7.8 | Melanoma cell line |
| HEK293 | 5.9 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2035C>T (p.Gln679*) | Nonsense | 1.2% in hepatocellular carcinoma | Loss of function; truncated protein |
| c.1670_1671del (p.Glu557Valfs*2) | Frameshift | 0.8% in melanoma | Loss of function; premature stop |
| c.2546G>A (p.Arg849Gln) | Missense | 0.3% in neurodevelopmental disorder | Likely damaging; altered protein function |
| c.1129C>T (p.Arg377*) | Nonsense | 0.5% in lung cancer | Loss of function; nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Most ARID2 mutations in cancer are truncating (nonsense, frameshift) or splice-site, leading to loss of protein function and impaired SWI/SNF complex activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ARID2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting complex assembly, but this is not well established.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/196528 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ARID2
Gene Ontology (GO)
| • GO:0006338 ~ chromatin remodeling | • GO:0005634 ~ nucleus |
| • GO:0042393 ~ histone binding | • GO:0003677 ~ DNA binding |
| • GO:0006357 ~ regulation of transcription by RNA polymerase II | • GO:0006325 ~ chromatin organization |
Pathways
• SWI/SNF complex (PBAF) - Reactome R-HSA-5250913
• Chromatin modifying enzymes - KEGG hsa05202
• Transcriptional regulation by the AP-2 family - WikiPathways WP2841
Protein Summary
ARID2 (BAF200) is a 1835-amino acid protein containing an AT-rich interaction domain (ARID), a RFX-type winged-helix domain, and multiple LXXLL motifs. It is a core component of the PBAF complex, which facilitates ATP-dependent nucleosome remodeling. The protein is essential for proper chromatin structure and gene expression regulation, particularly in liver and brain tissues.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID2 Knockout HEK293 Cell Line | EDJ-KQ2263 | Human | 196528 | Details Get a Quote |
| JARID2 Knockout HEK293 Cell Line | EDJ-KQ2474 | Human | 3720 | Details Get a Quote |
| ARID2 Knockout HeLa Cell Line | EDJ-KQ18173 | Human | 196528 | Details Get a Quote |
| JARID2 Knockout HCT 116 Cell Line | EDJ-KQ23039 | Human | 3720 | Details Get a Quote |
| JARID2 Knockout HeLa Cell Line | EDJ-KQ23040 | Human | 3720 | Details Get a Quote |
| JARID2 Knockout A-549 Cell Line | EDJ-KQ21683 | Human | 3720 | Details Get a Quote |
| ARID2 Knockout A-549 Cell Line | EDJ-KQ22589 | Human | 196528 | Details Get a Quote |
| ARID2 Knockout HCT 116 Cell Line | EDJ-KQ22590 | Human | 196528 | Details Get a Quote |
| Arid2 Knockout 4T1 Cell Line | EDJ-KZ552 | Mouse | 77044 | Details Get a Quote |
| Arid2 Knockout MC-38 Cell Line | EDJ-KZ553 | Mouse | 196528 | Details Get a Quote |
| JARID2 Knockout HAP1 Cell Line | EDC08086 | Human | 3720 | Details Get a Quote |
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