Molecular Pathology
Melanoma mutations

Author: Joshua Bradish, M.D. (see Authors page)

Editor: Gregory A. Hosler, M.D., Ph.D.

Revised: 25 September 2015, last major update September 2014

Copyright: (c) 2003-2015,, Inc.

PubMed Search: arid2
Cite this page: ARID2. website. Accessed May 22nd, 2018.
Definition / general
  • ARID2, AT-rich interactive domain containing protein 2, functions as a tumor suppressor gene/protein
  • It is located on chromosome 12q
  • ARID2 is a subunit of a chromatin remodeling complex
  • It functions to facilitate ligand-dependent transcriptional activity by nuclear receptors (Genes Dev 2005;19:1662, Oncotarget 2011;2:886)
Diagrams / tables
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ARID2 associations

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ARID2 function

Molecular / cytogenetics description
  • ARID2 mutations causing disease are loss of function mutations
  • Nonsense mutations are predicted to lack the Zn motifs required for DNA binding
  • There is some suggestion that UVB may cause some of these mutations leading to melanomagenesis (Cell 2012;150:251)
Clinical features
  • ARID2 is associated with melanoma and hepatocellular carcinoma most commonly, but has been described in many other tumors
  • No studies have described specific histological findings with ARID2 mutations
Microscopic (histologic) description
  • Detection of ARID2 mutations is not routinely performed in melanocytic proliferations
  • Inactivation mutations can be detected through whole exome sequencing and microarray
  • No mechanisms of resistance have been evaluated
Resistance therapies
  • No resistance therapies have been evaluated