Gene: ARID2
Alternate names for this Gene: BAF200|CSS6|p200
Gene Summary: 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.
Gene is located in Chromosome: 12
Location in Chromosome : 12q12
Description of this Gene: AT-rich interaction domain 2
Type of Gene: protein-coding
Gene: LOC105369745
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1555155263 in
ARID2;LOC105369745 gene and
Dysmorphic features
PMID 15985610 2005 PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.
PMID 26238514 2015 Mutations in ARID2 are associated with intellectual disabilities.
PMID 28124119 2017 Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
PMID 28884947 2017 Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.