TOX3

TOX high mobility group box family member 3
Identifiers
SymbolTOX3
Alt. symbolsTNRC9, CAGF9
NCBI gene27324
HGNC11972
OMIM611416
RefSeqXM_049037
UniProtO15405
Other data
LocusChr. 16 q12.1
Search for
StructuresSwiss-model
DomainsInterPro

TOX high mobility group box family member 3, also known as TOX3, is a human gene.[1][2]

The protein encoded by this gene is a member of a subfamily of transcription factors that also includes TOX, TOX2, and TOX4 that share almost identical HMG-box DNA-binding domains which function to modify chromatin structure by unwinding and bending DNA.[3] The protein TOX3 has a glutamine-rich C-terminus due to CAG repeats.[4] TOX3 is located on human chromosome band 16q12.1.[5] The gene consists of seven exons and is highly expressed in both the brain and luminal epithelial breast tissue.[6] Mutations in the gene are associated with increased susceptibility to breast cancer.[2] TOX3 plays a role in regulating calcium-dependent transcription and interacts with cAMP-response-element-binding protein (CREB) and CREB-binding protein (CBP).[7] It also increases transcription via interaction with CITED1, a transcription co-regulator that increases transcription factor activity.[7]

  1. ^ Smid M, Wang Y, Klijn JG, Sieuwerts AM, Zhang Y, Atkins D, et al. (May 2006). "Genes associated with breast cancer metastatic to bone". Journal of Clinical Oncology. 24 (15): 2261–7. doi:10.1200/JCO.2005.03.8802. PMID 16636340.
  2. ^ a b Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, et al. (June 2007). "Genome-wide association study identifies novel breast cancer susceptibility loci". Nature. 447 (7148): 1087–93. Bibcode:2007Natur.447.1087E. doi:10.1038/nature05887. PMC 2714974. PMID 17529967.
  3. ^ O'Flaherty E, Kaye J (April 2003). "TOX defines a conserved subfamily of HMG-box proteins". BMC Genomics. 4 (1): 13. doi:10.1186/1471-2164-4-13. PMC 155677. PMID 12697058.
  4. ^ "TOX3 TOX high mobility group box family member 3 [Homo sapiens (human)]". Gene - NCBI. National Center for Biotechnology Information (NCBI), U.S. National Library of Medicine.
  5. ^ "TOX3 (TOX high mobility group box family member 3)". Atlas of Genetics and Cytogenetics in Oncology and Haematology.
  6. ^ Jones JO, Chin SF, Wong-Taylor LA, Leaford D, Ponder BA, Caldas C, Maia AT (2013). "TOX3 mutations in breast cancer". PLOS ONE. 8 (9): e74102. Bibcode:2013PLoSO...874102J. doi:10.1371/journal.pone.0074102. PMC 3777980. PMID 24069272.
  7. ^ a b Gudmundsdottir ET, Barkardottir RB, Arason A, Gunnarsson H, Amundadottir LT, Agnarsson BA, et al. (December 2012). "The risk allele of SNP rs3803662 and the mRNA level of its closest genes TOX3 and LOC643714 predict adverse outcome for breast cancer patients". BMC Cancer. 12: 621. doi:10.1186/1471-2407-12-621. PMC 3553017. PMID 23270421.