ARID2

Up-regulated in adult heart (at protein level).

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.

Coffin-Siris syndrome 6

CSS6

A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Highly expressed in heart.

• Nucleus

BAF200, KIAA1557, ARID2, AT-rich interactive domain-containing protein 2, ARID domain-containing protein 2, BRG1-associated factor 200, Zinc finger protein with activation potential, Zipzap/p200

• entrezGene:196528
• omim:609539
• swissprot:Q68CP9

Proteins

Epigenetics

197391Da