AlphaFold predicted structure
ARID2 · Q68CP9
Mean pLDDT
51.2/ 100
Low
1,835 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)17%
- Low(50–70)5%
- Very low(< 50)63%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ARID2
Chr 12q12AT-rich interaction domain 2
- Aliases:
- KIAA1557, DKFZp686G052, FLJ30619, BAF200, SMARCF3
- MANE:
- ENST00000334344.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Coffin-Siris syndrome 6
0.73hepatocellular carcinoma
0.63melanoma
0.63Coffin-Siris syndrome
0.53hereditary disease
0.53neurodegenerative disease
0.50cutaneous melanoma
0.46cutaneous squamous cell carcinoma
0.42neurodevelopmental disorder
0.41medulloblastoma
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
AT-rich interactive domain-containing protein 2
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes
Diseases associated with ARID2
Curated MONDO disease pages that list ARID2 among their top associated genes.