ARID2

ARID2
Identifiers
Aliases	ARID2, BAF200, p200, AT-rich interaction domain 2, CSS6, SMARCF3
External IDs	OMIM: 609539; MGI: 1924294; HomoloGene: 14601; GeneCards: ARID2; OMA:ARID2 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	45,908,040 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	96,302,873 bp
RNA expression pattern
	Top expressed in
	sperm; ; pancreatic ductal cell; ; secondary oocyte; ; bone marrow cells; ; thymus; ; testicle; ; ventricular zone; ; nasal epithelium; ; epithelium of colon; ; ganglionic eminence;
	Top expressed in
	Rostral migratory stream; ; hair follicle; ; primitive streak; ; ciliary body; ; internal carotid artery; ; external carotid artery; ; vestibular membrane of cochlear duct; ; hand; ; vas deferens; ; iris;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; protein binding; metal ion binding; nucleic acid binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	plasma membrane; nucleus; nucleoplasm;
Biological process	nucleosome disassembly; regulation of transcription, DNA-templated; transcription, DNA-templated; negative regulation of cell migration; negative regulation of cell population proliferation; heart morphogenesis; homeostatic process; embryonic organ development; cardiac muscle cell proliferation; coronary artery morphogenesis; chromatin organization; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	196528
	77044
	ENSG00000189079
	ENSMUSG00000033237
	Q68CP9
	E9Q7E2
	NM_152641; NM_001347839
	NM_175251
	NP_001334768; NP_689854
	NP_780460
	Wikidata
View/Edit Human	View/Edit Mouse

AT-rich interactive domain-containing protein 2 (ARID2) is a protein that in humans is encoded by the ARID2 gene.^[5]

Function

ARID2 is a subunit of the PBAF chromatin-remodeling complex, which facilitates ligand-dependent transcriptional activation by nuclear receptors.^[5]

Structure

The ARID2 protein contains two conserved C-terminal C2H2 zinc fingers motifs, a region rich in the amino acid residues proline and glutamine, a RFX (regulatory factor X)-type winged-helix DNA-binding domain, and a conserved N-terminal A T-rich DNA interaction domain—the last domain for which the protein is named.^[6]

Clinical significance

Mutation studies have revealed ARID2 to be a significant tumor suppressor in many cancer subtypes. ARID2 mutations are prevalent in hepatocellular carcinoma^[7] and melanoma.^[8]^[9] Mutations are present in a smaller but significant fraction in a wide range of other tumors.^[10] ARID2 mutations are enriched in hepatitis C virus-associated hepatocellular carcinoma in the US and European patient populations compared with the overall mutation frequency.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000189079 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033237 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: ARID2 AT rich interactive domain 2 (ARID, RFX-like)".
^ ^a ^b Zhao H, Wang J, Han Y, Huang Z, Ying J, Bi X, Zhao J, Fang Y, Zhou H, Zhou J, Li Z, Zhang Y, Yang X, Yan T, Wang L, Torbenson MS, Cai J (Nov 2011). "ARID2: a new tumor suppressor gene in hepatocellular carcinoma". Oncotarget. 2 (11): 886–91. doi:10.18632/oncotarget.355. PMC 3259997. PMID 22095441.
^ Li M, Zhao H, Zhang X, Wood LD, Anders RA, Choti MA, Pawlik TM, Daniel HD, Kannangai R, Offerhaus GJ, Velculescu VE, Wang L, Zhou S, Vogelstein B, Hruban RH, Papadopoulos N, Cai J, Torbenson MS, Kinzler KW (Sep 2011). "Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma". Nature Genetics. 43 (9): 828–9. doi:10.1038/ng.903. PMC 3163746. PMID 21822264.
^ Hodis E, Watson IR, Kryukov GV, Arold ST, Imielinski M, Theurillat JP, Nickerson E, Auclair D, Li L, Place C, Dicara D, Ramos AH, Lawrence MS, Cibulskis K, Sivachenko A, Voet D, Saksena G, Stransky N, Onofrio RC, Winckler W, Ardlie K, Wagle N, Wargo J, Chong K, Morton DL, Stemke-Hale K, Chen G, Noble M, Meyerson M, Ladbury JE, Davies MA, Gershenwald JE, Wagner SN, Hoon DS, Schadendorf D, Lander ES, Gabriel SB, Getz G, Garraway LA, Chin L (Jul 2012). "A landscape of driver mutations in melanoma". Cell. 150 (2): 251–63. doi:10.1016/j.cell.2012.06.024. PMC 3600117. PMID 22817889.
^ Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R (Sep 2012). "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma". Nature Genetics. 44 (9): 1006–14. doi:10.1038/ng.2359. PMC 3432702. PMID 22842228.
^ Shain AH, Pollack JR (2013). "The spectrum of SWI/SNF mutations, ubiquitous in human cancers". PLOS ONE. 8 (1): e55119. Bibcode:2013PLoSO...855119S. doi:10.1371/journal.pone.0055119. PMC 3552954. PMID 23355908.