ARID2

ARID2 is 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

Full Name

ARID2

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.

Biological Process

Cardiac muscle cell proliferation Source: Ensembl
Coronary artery morphogenesis Source: Ensembl
Embryonic organ development Source: Ensembl
Heart morphogenesis Source: Ensembl
Homeostatic process Source: Ensembl
Negative regulation of cell migration Source: BHF-UCL
Negative regulation of cell population proliferation Source: BHF-UCL
Nucleosome disassembly Source: BHF-UCL
Positive regulation of double-strand break repair via homologous recombination Source: CACAO
Regulation of transcription, DNA-templated Source: InterPro

Cellular Location

Nucleus

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.