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Gene Review

H2AFZ  -  H2A histone family, member Z

Homo sapiens

Synonyms: H2A.Z, H2A.Z-1, H2A.z, H2A/z, H2AZ, ...
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Disease relevance of H2AFZ

  • Human H2AZ gene promoter fragments that included sequences upstream from the core promoter resulted in decreased activity of reporter constructs transfected into several human cell lines, but increased activity in the undifferentiated human embryonal carcinoma cell line Tera-2 [1].

High impact information on H2AFZ

  • Posttranslational histone modifications and histone variants form a unique epigenetic landscape on mammalian chromosomes where the principal epigenetic heterochromatin markers, trimethylated histone H3(K9) and the histone H2A.Z, are inversely localized in relation to each other [2].
  • Transcription-induced chromatin remodeling at the c-myc gene involves the local exchange of histone H2A.Z [3].
  • These results support the notion that the histone H2A.Z variant may play a chromatin-destabilizing role, which may be important for transcriptional activation [4].
  • Differences in recognition by importin beta1 were observed between histone H2A and the variant H2AZ, as well as between histone H3/4 with or without acetylation [5].
  • A pseudogene of the histone H2AZ gene has been identified, and maps within the third intron [6].

Biological context of H2AFZ

  • Histone H2A.Z is a distinct and evolutionarily conserved member of the histone H2A family whose synthesis, in contrast to that of most other histone species, is not dependent on DNA replication [7].
  • A 128 bp region located 234 to 361 bp upstream from the transcription start site of the H2AZ gene was found to be responsible for the modulation of reporter activity [1].

Associations of H2AFZ with chemical compounds

  • Differentiation of Tera-2 cells in media containing retinoic acid restored the ability of the upstream region to downregulate H2AZ gene promoter activity [1].

Analytical, diagnostic and therapeutic context of H2AFZ


  1. An upstream region of the H2AZ gene promoter modulates promoter activity in different cell types. Hatch, C.L., Bonner, W.M. Biochim. Biophys. Acta (1996) [Pubmed]
  2. Cathepsin L stabilizes the histone modification landscape on the Y chromosome and pericentromeric heterochromatin. Bulynko, Y.A., Hsing, L.C., Mason, R.W., Tremethick, D.J., Grigoryev, S.A. Mol. Cell. Biol. (2006) [Pubmed]
  3. Transcription-induced chromatin remodeling at the c-myc gene involves the local exchange of histone H2A.Z. Farris, S.D., Rubio, E.D., Moon, J.J., Gombert, W.M., Nelson, B.H., Krumm, A. J. Biol. Chem. (2005) [Pubmed]
  4. Characterization of the stability and folding of H2A.Z chromatin particles: implications for transcriptional activation. Abbott, D.W., Ivanova, V.S., Wang, X., Bonner, W.M., Ausió, J. J. Biol. Chem. (2001) [Pubmed]
  5. Distinct importin recognition properties of histones and chromatin assembly factors. Johnson-Saliba, M., Siddon, N.A., Clarkson, M.J., Tremethick, D.J., Jans, D.A. FEBS Lett. (2000) [Pubmed]
  6. Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. Lafrenière, R.G., Kibar, Z., Rochefort, D.L., Han, F.Y., Fon, E.A., Dubé, M.P., Kang, X., Baird, S., Korneluk, R.G., Rommens, J.M., Rouleau, G.A. Gene (1997) [Pubmed]
  7. Characterization of the proximal promoter of the human histone H2A.Z gene. Hatch, C.L., Bonner, W.M. DNA Cell Biol. (1995) [Pubmed]
  8. Chromosomal mapping of the human histone gene H2AZ to 4q24 by fluorescence in situ hybridization. Popescu, N., Zimonjic, D., Hatch, C., Bonner, W. Genomics (1994) [Pubmed]
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