ARID2
Developmental stage
Up-regulated in adult heart (at protein level).
Function
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.
Involvement in disease
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.
Tissue Specificity
Highly expressed in heart.
Cellular localization
- Nucleus
Alternative names
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