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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ARID1A
AT-rich interaction domain 1A
Chromosome 1 Β· 1p36.11
NCBI Gene: 8289Ensembl: ENSG00000117713.22HGNC: HGNC:11110UniProt: O14497
494PubMed Papers
21Diseases
0Drugs
141Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmpositive regulation of DNA-templated transcriptiontranscription coactivator activityprotein bindingintellectual disability, autosomal dominant 14Coffin-Siris syndromeurinary bladder cancerhepatocellular carcinoma
✦AI Summary

ARID1A is a core subunit of SWI/SNF chr1 remodeling complexes that regulates transcription through ATP-dependent alteration of nucleosome structure 1. It serves as a structural scaffold within the BAF complex base module, positioning the ATPase motor to pump DNA along nucleosomes 1. ARID1A functions in both neural development, where it participates in the npBAF-to-nBAF complex transition during neuronal differentiation, and in tissue-specific transcriptional regulation. Disease relevance is substantial: ARID1A is the most commonly mutated SWI/SNF component in human cancers (~6% overall), with particularly high frequencies in ovarian clear cell carcinomas (~45%) and uterine endometrioid cancers (~37%) 2. Loss-of-function ARID1A mutations drive tumorigenesis through multiple mechanisms including dysregulation of PI3K/AKT/mTOR signaling, immune evasion, and altered p53 and KRAS pathway control 2. Notably, ARID1A-deficient tumors exhibit enhanced anti-tumor immunity via R-loop accumulation and STING-dependent type I interferon signaling, conferring improved responsiveness to immune checkpoint blockade 3. Clinically, ARID1A alterations present therapeutic opportunities: immune checkpoint inhibitors, mTOR/EZH2 inhibitors, HDAC inhibitors, and PARP inhibitors show promise 2. Mevalonate pathway inhibition synergizes with immunotherapy in ARID1A-mutant ovarian cancers 4, while estrogen receptor antagonists and bromodomain inhibitors have context-dependent efficacy in ARID1A-altered breast cancers 5.

Sources cited
1
ARID1A serves as structural scaffold in BAF complex base module and positions ATPase motor for nucleosome remodeling
PMID: 32001526
2
ARID1A is most commonly mutated SWI/SNF component in ~6% of cancers overall, with high frequencies in specific ovarian and uterine cancers, and regulates multiple oncogenic pathways
PMID: 34619527
3
ARID1A loss promotes anti-tumor immunity through R-loop-mediated STING-dependent type I interferon signaling and improves ICB responsiveness
PMID: 38754421
4
Mevalonate pathway inhibition synergizes with immune checkpoint blockade in ARID1A-inactivated ovarian cancers through inflammasome-regulated pyroptosis
PMID: 36963401
5
ARID1A mediates response to estrogen receptor antagonists and bromodomain inhibitors in breast cancer through chromatin-level regulation
PMID: 31913353
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 14Open Targets
0.78Strong
Coffin-Siris syndromeOpen Targets
0.72Strong
urinary bladder cancerOpen Targets
0.69Moderate
hepatocellular carcinomaOpen Targets
0.64Moderate
urinary bladder carcinomaOpen Targets
0.63Moderate
gastric adenocarcinomaOpen Targets
0.62Moderate
colorectal adenocarcinomaOpen Targets
0.59Moderate
breast adenocarcinomaOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
Coffin-Siris syndrome 1Open Targets
0.56Moderate
pancreatic adenocarcinomaOpen Targets
0.55Moderate
lung adenocarcinomaOpen Targets
0.54Moderate
endometrial cancerOpen Targets
0.53Moderate
Burkitts lymphomaOpen Targets
0.53Moderate
cholangiocarcinomaOpen Targets
0.53Moderate
esophageal cancerOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.53Moderate
colorectal cancerOpen Targets
0.51Moderate
colon adenocarcinomaOpen Targets
0.48Moderate
lymphomaOpen Targets
0.48Moderate
Coffin-Siris syndrome 2UniProt
Pathogenic Variants141
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)Pathogenic
not provided|Intellectual disability, autosomal dominant 14|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 1077
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter)Pathogenic
Intellectual disability, autosomal dominant 14|ARID1A-related BAFopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 450
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)Pathogenic
Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 11
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)Likely pathogenic
Intellectual disability, autosomal dominant 14
β˜…β˜…β˜†β˜†2025β†’ Residue 1023
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)Pathogenic
not provided|Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 1011
NM_006015.6(ARID1A):c.3198+5G>ALikely pathogenic
Intellectual disability, autosomal dominant 14|not provided
β˜…β˜…β˜†β˜†2024
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)Pathogenic
Intellectual disability, autosomal dominant 14|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1096
NM_006015.6(ARID1A):c.1920+5G>ALikely pathogenic
not provided|Intellectual disability, autosomal dominant 14
β˜…β˜…β˜†β˜†2024
NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=)Likely pathogenic
not provided|Neurodevelopmental delay
β˜…β˜…β˜†β˜†2024β†’ Residue 1367
NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter)Pathogenic
ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14
β˜…β˜…β˜†β˜†2024β†’ Residue 56
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)Likely pathogenic
Intellectual disability, autosomal dominant 14|ARID1A-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 199
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 14
β˜…β˜…β˜†β˜†2022β†’ Residue 548
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)Pathogenic
Intellectual disability, autosomal dominant 14|Neoplasm
β˜…β˜…β˜†β˜†2022β†’ Residue 339
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)Likely pathogenic
not provided|Intellectual disability, autosomal dominant 14
β˜…β˜…β˜†β˜†2022β†’ Residue 1057
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)Pathogenic
Intellectual disability, autosomal dominant 14|ARID1A-related BAFopathy
β˜…β˜…β˜†β˜†2022β†’ Residue 2045
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)Pathogenic
Intellectual disability, autosomal dominant 14|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 1023
NM_006015.6(ARID1A):c.802C>T (p.Gln268Ter)Pathogenic
Intellectual disability, autosomal dominant 14
β˜…β˜†β˜†β˜†2025β†’ Residue 268
NM_006015.6(ARID1A):c.2162-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006015.6(ARID1A):c.3977C>T (p.Pro1326Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1326
NM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter)Pathogenic
Malignant tumor of urinary bladder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 775
View on ClinVar β†—
Related Genes
PPARGProtein interaction100%H3-3BProtein interaction100%BRD4Protein interaction100%EP300Protein interaction100%KDM3BProtein interaction100%KDM3AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
69%
Ovary
57%
Lung
55%
Heart
49%
Liver
46%
Gene Interaction Network
Click a node to explore
ARID1APPARGH3-3BBRD4EP300KDM3BKDM3A
PROTEIN STRUCTURE
Preparing viewer…
PDB6LTH Β· 3.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.14Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.07–0.14]
RankingsWhere ARID1A stands among ~20K protein-coding genes
  • #537of 20,598
    Most Researched494 Β· top 5%
  • #537of 5,498
    Most Pathogenic Variants141 Β· top 10%
  • #170of 17,882
    Most Constrained (LOEUF)0.14 Β· top 1%
Genes detectedARID1A
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
ARID1A suppresses R-loop-mediated STING-type I interferon pathway activation of anti-tumor immunity.
PMID: 38754421
Cell Β· 2024
1.00
2
Targeting ARID1A mutations in cancer.
PMID: 34619527
Cancer Treat Rev Β· 2021
0.90
3
Structure of nucleosome-bound human BAF complex.
PMID: 32001526
Science Β· 2020
0.80
4
Targeting the mevalonate pathway suppresses ARID1A-inactivated cancers by promoting pyroptosis.
PMID: 36963401
Cancer Cell Β· 2023
0.70
5
Targeting the TCA cycle through cuproptosis confers synthetic lethality on ARID1A-deficient hepatocellular carcinoma.
PMID: 37939712
Cell Rep Med Β· 2023
0.68