ARID2 Chromosome 12
AT-rich interaction domain 2
Upload your DNA to see your personal genotypes for variants in ARID2.
What This Gene Does
This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"AT-rich interaction domain containing|Armadillo like helical domain containing|PBAF complex subunits"
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000189079
Associated Conditions (11)
Inborn genetic diseases
Coffin-Siris syndrome 6
Medulloblastoma non-WNT/non-SHH group 4
Neurodevelopmental delay
ARID2-related BAFopathy
Chronic diarrhea
ARID2-related disorder
Neurodevelopmental disorder
Gastric cancer
Desmoplastic/nodular medulloblastoma
Medulloblastoma WNT activated
Key Variants
RS1257668817
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144553917
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
Health Risk
RS2138174491
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
Health Risk
RS749833945
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 6, Inborn genetic diseases, Coffin-Siris syndrome 6
Health Risk
RS769786026
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 6, Inborn genetic diseases, Coffin-Siris syndrome 6
Health Risk
RS76994389
Conflicting classifications of pathogenicity
Health Risk
RS113548014
Likely pathogenic
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
Health Risk
RS1555152193
Likely pathogenic
Health Risk
RS1555162230
Likely pathogenic
Health Risk
RS1592121202
Likely pathogenic
Coffin-Siris syndrome 6, Medulloblastoma non-WNT/non-SHH group 4, Coffin-Siris syndrome 6
Health Risk
RS1943488528
Likely pathogenic
Health Risk
RS2137959601
Likely pathogenic
Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1943290352 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1943504725 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1943537473 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1943579551 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1944306056 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, ARID2-related BAFopathy, Coffin-Siris syndrome 6 |
| RS2137959683 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2137959875 | Health Risk | Pathogenic | ARID2-related BAFopathy, ARID2-related BAFopathy |
| RS2138132429 | Health Risk | Pathogenic | ARID2-related BAFopathy, ARID2-related BAFopathy |
| RS2138136386 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138150784 | Health Risk | Pathogenic | ARID2-related BAFopathy, ARID2-related BAFopathy |
| RS2138157209 | Health Risk | Pathogenic | Desmoplastic/nodular medulloblastoma, Desmoplastic/nodular medulloblastoma |
| RS2138162523 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138162739 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138165644 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2138165905 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138168655 | Health Risk | Pathogenic | — |
| RS2138170893 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138174785 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138177931 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138178306 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138180455 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138181920 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138233303 | Health Risk | Pathogenic | — |
| RS2547601624 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2547643971 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2547651122 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2547653183 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2547659152 | Health Risk | Pathogenic | — |
| RS2547661677 | Health Risk | Pathogenic | — |
| RS774801990 | Health Risk | Pathogenic | Medulloblastoma WNT activated, Medulloblastoma WNT activated |
| RS796052240 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS796052241 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS879255529 | Health Risk | Pathogenic | — |
| RS886041882 | Health Risk | Pathogenic | — |
| RS1943228378 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 6, ARID2-related BAFopathy, Coffin-Siris syndrome 6 |
| RS2138082983 | Health Risk | Pathogenic/Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |