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) [1] Band 12q12 Start 45,729,706 bp [1] End 45,908,040 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 F1 Start 96,185,399 bp [2] End 96,302,873 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm pancreatic ductal cell secondary oocyte bone marrow cell 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 BioGPS 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 Species Human Mouse Entrez 196528 77044 Ensembl ENSG00000189079 ENSMUSG00000033237 UniProt Q68CP9 E9Q7E2 RefSeq (mRNA) NM_152641 NM_001347839 NM_175251 RefSeq (protein) NP_001334768 NP_689854 NP_780460 Location (UCSC) Chr 12: 45.73 – 45.91 Mb Chr 15: 96.19 – 96.3 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000189079 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033237 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: ARID2 AT rich interactive domain 2 (ARID, RFX-like)".
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.

Further reading

• Martens JA, Winston F (Apr 2003). "Recent advances in understanding chromatin remodeling by Swi/Snf complexes". Current Opinion in Genetics & Development. 13 (2): 136–42. doi:10.1016/S0959-437X(03)00022-4. PMID   12672490.
• Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (Aug 2000). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (4): 273–81. doi: 10.1093/dnares/7.4.271 . PMID   10997877.
• Mohrmann L, Langenberg K, Krijgsveld J, Kal AJ, Heck AJ, Verrijzer CP (Apr 2004). "Differential targeting of two distinct SWI/SNF-related Drosophila chromatin-remodeling complexes". Molecular and Cellular Biology. 24 (8): 3077–88. doi:10.1128/MCB.24.8.3077-3088.2004. PMC   381637 . PMID   15060132.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.
• Diederichs S, Bäumer N, Ji P, Metzelder SK, Idos GE, Cauvet T, Wang W, Möller M, Pierschalski S, Gromoll J, Schrader MG, Koeffler HP, Berdel WE, Serve H, Müller-Tidow C (Aug 2004). "Identification of interaction partners and substrates of the cyclin A1-CDK2 complex". The Journal of Biological Chemistry. 279 (32): 33727–41. doi: 10.1074/jbc.M401708200 . PMID   15159402.
• Patsialou A, Wilsker D, Moran E (2005). "DNA-binding properties of ARID family proteins". Nucleic Acids Research. 33 (1): 66–80. doi:10.1093/nar/gki145. PMC   546134 . PMID   15640446.
• Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW, Moran E (Aug 2005). "Nomenclature of the ARID family of DNA-binding proteins". Genomics. 86 (2): 242–51. doi:10.1016/j.ygeno.2005.03.013. PMID   15922553.
• Yan Z, Cui K, Murray DM, Ling C, Xue Y, Gerstein A, Parsons R, Zhao K, Wang W (Jul 2005). "PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes". Genes & Development. 19 (14): 1662–7. doi:10.1101/gad.1323805. PMC   1176002 . PMID   15985610.
• Zhang X, Azhar G, Zhong Y, Wei JY (Aug 2006). "Zipzap/p200 is a novel zinc finger protein contributing to cardiac gene regulation". Biochemical and Biophysical Research Communications. 346 (3): 794–801. Bibcode:2006BBRC..346..794Z. doi:10.1016/j.bbrc.2006.05.211. PMID   16782067.

External links

• ARID2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ARID2 genome location and ARID2 gene details page in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.