ARID2 Chromosome 12
AT-rich interaction domain 2
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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 |
|---|---|---|---|
| RS1257668817 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144553917 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138174491 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS749833945 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 6, Inborn genetic diseases, Coffin-Siris syndrome 6 |
| RS769786026 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 6, Inborn genetic diseases, Coffin-Siris syndrome 6 |
| RS76994389 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS113548014 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555152193 | Health Risk | Likely pathogenic | — |
| RS1555162230 | Health Risk | Likely pathogenic | — |
| RS1592121202 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Medulloblastoma non-WNT/non-SHH group 4, Coffin-Siris syndrome 6 |
| RS1943488528 | Health Risk | Likely pathogenic | — |
| RS2137959601 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138126544 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138127522 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138130716 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2138132620 | Health Risk | Likely pathogenic | ARID2-related BAFopathy, ARID2-related BAFopathy |
| RS2138165087 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138166428 | Health Risk | Likely pathogenic | ARID2-related BAFopathy, ARID2-related BAFopathy |
| RS2138168418 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138177726 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138192598 | Health Risk | Likely pathogenic | — |
| RS2138231889 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2138232693 | Health Risk | Likely pathogenic | Chronic diarrhea, Chronic diarrhea |
| RS2547641868 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2547657751 | Health Risk | Likely pathogenic | ARID2-related disorder, ARID2-related disorder |
| RS2547658294 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2547662010 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS2547663091 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS772995852 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS79280775 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Gastric cancer, Neurodevelopmental disorder |
| RS796052242 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS79730631 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1057524391 | Health Risk | Pathogenic | — |
| RS1343039962 | Health Risk | Pathogenic | ARID2-related BAFopathy, ARID2-related BAFopathy |
| RS1368075571 | Health Risk | Pathogenic | — |
| RS1555139310 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555148625 | Health Risk | Pathogenic | — |
| RS1555152246 | Health Risk | Pathogenic | — |
| RS1555154946 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555155026 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555155252 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1555155263 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1565642121 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1592118879 | Health Risk | Pathogenic | — |
| RS1592118927 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1592121317 | Health Risk | Pathogenic | — |
| RS1592121752 | Health Risk | Pathogenic | — |
| RS1592145571 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |
| RS1942707093 | Health Risk | Pathogenic | — |
| RS1943242602 | Health Risk | Pathogenic | Coffin-Siris syndrome 6, Coffin-Siris syndrome 6 |