AT-Rich Interaction Domain-Containing Protein 2

Alternative Names

  • ARID2
  • ARID-Containing Protein 2
  • BRG1-Associated Factor, 200-Kd
  • BAF200
  • Kiaa1557
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OMIM Number

609539

NCBI Gene ID

196528

Uniprot ID

Q68CP9

Length

178,332 bases

No. of Exons

22

No. of isoforms

2

Protein Name

AT-rich interactive domain-containing protein 2

Molecular Mass

197391 Da

Amino Acid Count

1835

Genomic Location

chr12:45,729,705-45,908,036

Gene Map Locus
12q12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152641.4:c.285-4805G>TUnited Arab EmiratesNC_000012.12:g.45806613G>TNG_052800.1:g.81949G>T; NM_152641.4:c.285-4805G>T; NP_689854.2:p.?7316454
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