ARID1A Gene
AT-Rich Interaction Domain 1A: A Key Chromatin Remodeler in Development and Cancer
Gene Information Card
| Symbol | ARID1A |
|---|---|
| Full Name | AT-Rich Interaction Domain 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 8289 ncbi.nlm.nih.gov/gene/8289 |
| Ensembl ID | ENSG00000017797 |
| UniProt ID | O14497 |
| OMIM ID | 603024 |
| HGNC ID | 11110 |
| Aliases | BAF250a, BAF250, SMARCF1, OSA1, MRD14, CSS2, ELD, hOSA1 |
Description
ARID1A (AT-Rich Interaction Domain 1A) encodes a protein that is a key component of the SWI/SNF chromatin remodeling complex, which regulates gene expression by altering nucleosome positioning. The protein contains an AT-rich DNA-binding domain and is involved in processes such as cell cycle control, differentiation, and DNA repair. Loss-of-function mutations in ARID1A are frequently observed in various cancers, particularly ovarian clear cell carcinoma and endometrioid carcinoma, and germline mutations are associated with Coffin-Siris syndrome and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian clear cell carcinoma | Inactivating mutations lead to loss of SWI/SNF complex function, promoting tumorigenesis | Somatic mutations in ~50% of cases (PMID: 20601955) |
| Endometrioid ovarian carcinoma | Loss of ARID1A disrupts chromatin remodeling, contributing to cancer development | Somatic mutations in ~30% of cases (PMID: 20601955) |
| Coffin-Siris syndrome | Germline heterozygous mutations cause haploinsufficiency, leading to developmental defects | Pathogenic variants in ARID1A (PMID: 22985903) |
| Gastric cancer | Inactivating mutations and loss of expression contribute to tumor progression | Somatic mutations in ~10% of cases (PMID: 22197931) |
| Hepatocellular carcinoma | ARID1A mutations are associated with poor prognosis and altered chromatin state | Somatic mutations in ~5-10% of cases (PMID: 22197931) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.5 | Medium |
| Ovary | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Lung | 10.1 | Low |
| Liver | 8.3 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| A549 | 12.1 | Lung cancer cell line |
| HepG2 | 9.5 | Liver cancer cell line |
| MCF7 | 15.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | ~5% in ovarian clear cell carcinoma | Loss of function, protein truncation |
| c.4567_4568del (p.Leu1523fs) | Frameshift | ~3% in gastric cancer | Loss of function, premature stop codon |
| c.7890G>A (p.Trp2630*) | Nonsense | ~2% in hepatocellular carcinoma | Loss of function, protein truncation |
| c.2345A>G (p.Tyr782Cys) | Missense | Rare | Uncertain significance, may affect DNA binding |
Mutation functional classification
Loss of Function (LOF)
Most common; nonsense, frameshift, and splice-site mutations lead to truncated or absent protein, reducing SWI/SNF complex activity.
Gain of Function (GOF)
Not reported for ARID1A.
Dominant Negative (DN)
Not established; haploinsufficiency is the primary mechanism in Coffin-Siris syndrome.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA binding |
| • nucleosome disassembly | • regulation of transcription by RNA polymerase II |
| • cell cycle arrest |
Pathways
• SWI/SNF complex (P51531)
• Chromatin organization (R-HSA-4839726)
• Transcriptional regulation by the AP-2 family (R-HSA-8866907)
Protein Summary
ARID1A (BAF250a) is a 2285-amino acid protein that serves as a DNA-binding subunit of the SWI/SNF chromatin remodeling complex. It contains an AT-rich interaction domain (ARID) that binds DNA, and a C-terminal domain involved in complex assembly. The protein is essential for proper nucleosome positioning and gene expression regulation. Loss of ARID1A function is a hallmark of several cancers and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARID1A Knockout SNK-6 Cell Line | EDJ-KQ64 | Human | 8289 | Details Get a Quote |
| ARID1A Knockout HEK293 Cell Line | EDJ-KQ1091 | Human | 8289 | Details Get a Quote |
| ARID1A Knockout A-549 Cell Line | EDJ-KQ18135 | Human | 8289 | Details Get a Quote |
| ARID1A Knockout HeLa Cell Line | EDJ-KQ20256 | Human | 8289 | Details Get a Quote |
| Arid1a Knockout 4T1 Cell Line | EDJ-KZ548 | Mouse | 93760 | Details Get a Quote |
| Arid1a Knockout ID8 Cell Line | EDJ-KZ549 | Mouse | 93760 | Details Get a Quote |
| Arid1a Knockout MC-38 Cell Line | EDJ-KZ550 | Mouse | 8289 | Details Get a Quote |
| ARID1A Knockout NCI-H1299 Cell Line | EDJ-KZ551 | Human | 8289 | Details Get a Quote |
| ARID1A Knockout HCT 116 Cell Line | EDC08280 | Human | 8289 | Details Get a Quote |
| ARID1A (p.P427=) Point Mutation in HAP1 Cell Line | EDC03400 | Human | 8289 | Details Get a Quote |
| ARID1A (p.P1326L) Point Mutation in HAP1 Cell Line | EDC03401 | Human | 8289 | Details Get a Quote |
| ARID1A Knockout HEC-1-A Cell Line | EDJ-KQ78080 | Human | 8289 | Details Get a Quote |
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